nsv6627028
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:23
- Validation:Not tested
- Clinical Assertions: No
- Region Size:433,273
- 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: 1683 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1738 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627028 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nsv6627028 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282859 | duplication | OSC2265 | SNP array | Probe signal intensity | 6 |
| nssv18283278 | duplication | OSC2354 | SNP array | Probe signal intensity | nssv18283279, nssv18283280, nssv18283281 |
| nssv18283477 | duplication | OSC2259 | SNP array | Probe signal intensity | 6 |
| nssv18284824 | duplication | OSC2564 | SNP array | Probe signal intensity | 8 |
| nssv18287011 | duplication | OSC3071 | SNP array | Probe signal intensity | 6 |
| nssv18287316 | duplication | OSC3044 | SNP array | Probe signal intensity | 7 |
| nssv18288910 | duplication | OSC3286 | SNP array | Probe signal intensity | nssv18288911 |
| nssv18289504 | duplication | OSC3505 | SNP array | Probe signal intensity | nssv18289256, nssv18289503 |
| nssv18291372 | duplication | OSC3721 | SNP array | Probe signal intensity | nssv18290481, nssv18290482 |
| nssv18291810 | duplication | OSC3844 | SNP array | Probe signal intensity | 5 |
| nssv18297846 | duplication | OSC0516 | SNP array | Probe signal intensity | 7 |
| nssv18307944 | duplication | OSC0715 | SNP array | Probe signal intensity | 8 |
| nssv18310789 | duplication | OSC0766 | SNP array | Probe signal intensity | 8 |
| nssv18315098 | duplication | OSC0850 | SNP array | Probe signal intensity | 8 |
| nssv18321669 | duplication | OSC1111 | SNP array | Probe signal intensity | 5 |
| nssv18322276 | duplication | OSC1334 | SNP array | Probe signal intensity | 6 |
| nssv18322840 | duplication | OSC0149 | SNP array | Probe signal intensity | 6 |
| nssv18323460 | duplication | OSC0156 | SNP array | Probe signal intensity | 5 |
| nssv18324197 | duplication | OSC1587 | SNP array | Probe signal intensity | 5 |
| nssv18324690 | duplication | OSC1730 | SNP array | Probe signal intensity | 7 |
| nssv18324863 | duplication | OSC1855 | SNP array | Probe signal intensity | 7 |
| nssv18325497 | duplication | OSC1839 | SNP array | Probe signal intensity | 5 |
| nssv18325970 | duplication | OSC1990 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282859 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18283278 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18283477 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18284824 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18287011 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18287316 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18288910 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18289504 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18291372 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18291810 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18297846 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18307944 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18310789 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18315098 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18321669 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18322276 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18322840 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18323460 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18324197 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18324690 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18324863 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18325497 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18325970 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1680822 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,808,228 |
| nssv18282859 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18283278 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18283477 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18284824 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18287011 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18287316 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18288910 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18289504 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18291372 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18291810 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18297846 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18307944 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18310789 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18315098 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18321669 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18322276 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18322840 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18323460 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18324197 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18324690 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18324863 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18325497 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 | ||
| nssv18325970 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1728911 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,289,118 |