nsv6625624
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,021
- 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6625624 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,729 |
nsv6625624 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 1,386,089 | 1,431,109 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18283153 | deletion | OSC2466 | SNP array | Probe signal intensity | nssv18285014, nssv18283152 |
nssv18289678 | deletion | OSC3398 | SNP array | Probe signal intensity | 5 |
nssv18291782 | deletion | OSC3977 | SNP array | Probe signal intensity | 5 |
nssv18295702 | deletion | OSC4641 | SNP array | Probe signal intensity | 8 |
nssv18296827 | deletion | OSC4791 | SNP array | Probe signal intensity | 14 |
nssv18300592 | duplication | OSC5546 | SNP array | Probe signal intensity | 5 |
nssv18324769 | deletion | OSC1798 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18283153 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495729_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,729 |
nssv18289678 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495729_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,729 |
nssv18291782 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495729_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,729 |
nssv18295702 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495729_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,729 |
nssv18296827 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495729_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,729 |
nssv18300592 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495729_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,729 |
nssv18324769 | Remapped | Perfect | NC_000001.11:g.(?_ 1450709)_(1495729_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,450,709 | 1,495,729 |
nssv18283153 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431109_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,109 | ||
nssv18289678 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431109_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,109 | ||
nssv18291782 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431109_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,109 | ||
nssv18295702 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431109_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,109 | ||
nssv18296827 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431109_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,109 | ||
nssv18300592 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431109_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,109 | ||
nssv18324769 | Submitted genomic | NC_000001.10:g.(?_ 1386089)_(1431109_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,386,089 | 1,431,109 |