nsv6632019
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:128,717
- 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: 1180 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1178 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632019 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nsv6632019 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283345 | duplication | OSC2418 | SNP array | Probe signal intensity | 6 |
| nssv18283651 | duplication | OSC2375 | SNP array | Probe signal intensity | nssv18283944, nssv18283945, nssv18283946 |
| nssv18285059 | duplication | OSC2498 | SNP array | Probe signal intensity | 5 |
| nssv18290091 | duplication | OSC3478 | SNP array | Probe signal intensity | nssv18289223, nssv18289469, nssv18290090 |
| nssv18290176 | duplication | OSC3533 | SNP array | Probe signal intensity | 7 |
| nssv18290996 | duplication | OSC3661 | SNP array | Probe signal intensity | 10 |
| nssv18291123 | duplication | OSC3755 | SNP array | Probe signal intensity | 8 |
| nssv18292757 | duplication | OSC0411 | SNP array | Probe signal intensity | 8 |
| nssv18294945 | duplication | OSC4273 | SNP array | Probe signal intensity | 7 |
| nssv18300490 | duplication | OSC0559 | SNP array | Probe signal intensity | nssv18300240, nssv18300840 |
| nssv18304659 | duplication | OSC0649 | SNP array | Probe signal intensity | 12 |
| nssv18305139 | duplication | OSC0658 | SNP array | Probe signal intensity | 7 |
| nssv18322051 | duplication | OSC1175 | SNP array | Probe signal intensity | nssv18321135 |
| nssv18322152 | duplication | OSC1254 | SNP array | Probe signal intensity | 7 |
| nssv18324097 | duplication | OSC1708 | SNP array | Probe signal intensity | 9 |
| nssv18324681 | duplication | OSC1720 | SNP array | Probe signal intensity | 8 |
| nssv18324705 | duplication | OSC1742 | SNP array | Probe signal intensity | 5 |
| nssv18325671 | duplication | OSC1779 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283345 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18283651 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18285059 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18290091 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18290176 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18290996 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18291123 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18292757 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18294945 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18300490 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18304659 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18305139 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18322051 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18322152 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18324097 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18324681 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18324705 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18325671 | Remapped | Perfect | NC_000007.14:g.(?_ 76803336)_(7693205 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,803,336 | 76,932,052 |
| nssv18283345 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18283651 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18285059 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18290091 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18290176 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18290996 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18291123 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18292757 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18294945 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18300490 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18304659 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18305139 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18322051 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18322152 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18324097 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18324681 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18324705 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 | ||
| nssv18325671 | Submitted genomic | NC_000007.13:g.(?_ 76432653)_(7656136 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,432,653 | 76,561,369 |