nsv6625378
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:31
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,075
- Publication(s):Zarrei et al. 2023
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1100 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1100 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625378 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nsv6625378 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282864 | deletion | OSC2268 | SNP array | Probe signal intensity | 7 |
| nssv18283299 | deletion | OSC2369 | SNP array | Probe signal intensity | 5 |
| nssv18284777 | deletion | OSC2528 | SNP array | Probe signal intensity | 7 |
| nssv18285127 | deletion | OSC2547 | SNP array | Probe signal intensity | 9 |
| nssv18285568 | deletion | OSC0029 | SNP array | Probe signal intensity | nssv18286454, nssv18286179 |
| nssv18286506 | deletion | OSC2878 | SNP array | Probe signal intensity | 10 |
| nssv18287359 | duplication | OSC0315 | SNP array | Probe signal intensity | 6 |
| nssv18287595 | deletion | OSC3003 | SNP array | Probe signal intensity | 7 |
| nssv18287601 | deletion | OSC3008 | SNP array | Probe signal intensity | nssv18286699, nssv18286700, nssv18287600 |
| nssv18288586 | deletion | OSC3271 | SNP array | Probe signal intensity | 10 |
| nssv18289100 | deletion | OSC3391 | SNP array | Probe signal intensity | 10 |
| nssv18289443 | deletion | OSC3460 | SNP array | Probe signal intensity | nssv18289200, nssv18289444, nssv18289769 |
| nssv18289906 | deletion | OSC3557 | SNP array | Probe signal intensity | 5 |
| nssv18290181 | deletion | OSC3535 | SNP array | Probe signal intensity | 13 |
| nssv18291017 | deletion | OSC3680 | SNP array | Probe signal intensity | nssv18290427, nssv18290686 |
| nssv18291454 | deletion | OSC3769 | SNP array | Probe signal intensity | nssv18290547, nssv18291142, nssv18291453 |
| nssv18291630 | deletion | OSC3882 | SNP array | Probe signal intensity | 8 |
| nssv18292769 | deletion | OSC4026 | SNP array | Probe signal intensity | 13 |
| nssv18292790 | deletion | OSC4040 | SNP array | Probe signal intensity | 6 |
| nssv18292911 | deletion | OSC4118 | SNP array | Probe signal intensity | 9 |
| nssv18293127 | deletion | OSC4114 | SNP array | Probe signal intensity | nssv18293126, nssv18293128, nssv18293483 |
| nssv18294246 | deletion | OSC4428 | SNP array | Probe signal intensity | 5 |
| nssv18294437 | deletion | OSC4386 | SNP array | Probe signal intensity | 7 |
| nssv18296856 | deletion | OSC4808 | SNP array | Probe signal intensity | nssv18296857, nssv18296620 |
| nssv18297122 | deletion | OSC4767 | SNP array | Probe signal intensity | 6 |
| nssv18300695 | deletion | OSC5615 | SNP array | Probe signal intensity | 6 |
| nssv18306839 | deletion | OSC0698 | SNP array | Probe signal intensity | 7 |
| nssv18320596 | deletion | OSC0990 | SNP array | Probe signal intensity | 7 |
| nssv18320882 | deletion | OSC0991 | SNP array | Probe signal intensity | 7 |
| nssv18320909 | deletion | OSC1009 | SNP array | Probe signal intensity | 5 |
| nssv18324169 | deletion | OSC0161 | SNP array | Probe signal intensity | nssv18323531, nssv18324456 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282864 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18283299 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18284777 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18285127 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18285568 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18286506 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18287359 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18287595 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18287601 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18288586 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18289100 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18289443 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18289906 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18290181 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18291017 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18291454 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18291630 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18292769 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18292790 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18292911 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18293127 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18294246 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18294437 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18296856 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18297122 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18300695 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18306839 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18320596 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18320882 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18320909 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18324169 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495783_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,783 |
| nssv18282864 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18283299 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18284777 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18285127 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18285568 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18286506 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18287359 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18287595 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18287601 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18288586 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18289100 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18289443 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18289906 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18290181 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18291017 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18291454 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18291630 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18292769 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18292790 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18292911 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18293127 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18294246 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18294437 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18296856 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18297122 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18300695 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18306839 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18320596 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18320882 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18320909 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 | ||
| nssv18324169 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431163_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,163 |