nsv6621722
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:34,653
- 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: 263 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 263 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6621722 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nsv6621722 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282740 | deletion | OSC2169 | SNP array | Probe signal intensity | 7 |
| nssv18290213 | deletion | OSC3561 | SNP array | Probe signal intensity | 9 |
| nssv18291231 | deletion | OSC3618 | SNP array | Probe signal intensity | nssv18290926 |
| nssv18291920 | deletion | OSC3919 | SNP array | Probe signal intensity | nssv18292268, nssv18292269, nssv18291680 |
| nssv18293022 | deletion | OSC4049 | SNP array | Probe signal intensity | 6 |
| nssv18293862 | deletion | OSC4162 | SNP array | Probe signal intensity | 6 |
| nssv18296803 | deletion | OSC4778 | SNP array | Probe signal intensity | 13 |
| nssv18298202 | deletion | OSC5126 | SNP array | Probe signal intensity | 9 |
| nssv18298785 | duplication | OSC5054 | SNP array | Probe signal intensity | 8 |
| nssv18300572 | duplication | OSC5528 | SNP array | Probe signal intensity | 5 |
| nssv18304240 | deletion | OSC0644 | SNP array | Probe signal intensity | 10 |
| nssv18320976 | deletion | OSC1064 | SNP array | Probe signal intensity | nssv18320977, nssv18321356 |
| nssv18323873 | deletion | OSC1552 | SNP array | Probe signal intensity | nssv18324150, nssv18324436, nssv18324437 |
| nssv18324348 | deletion | OSC1690 | SNP array | Probe signal intensity | nssv18324068, nssv18324069, nssv18323695 |
| nssv18324855 | deletion | OSC1850 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282740 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18290213 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18291231 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18291920 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18293022 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18293862 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18296803 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18298202 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18298785 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18300572 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18304240 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18320976 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18323873 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18324348 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18324855 | Remapped | Perfect | NC_000012.12:g.(?_ 56948404)_(5698305 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 56,948,404 | 56,983,056 |
| nssv18282740 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18290213 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18291231 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18291920 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18293022 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18293862 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18296803 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18298202 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18298785 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18300572 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18304240 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18320976 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18323873 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18324348 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 | ||
| nssv18324855 | Submitted genomic | NC_000012.11:g.(?_ 57342188)_(5737684 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,342,188 | 57,376,840 |