nsv6624227
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:87,428
- 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: 429 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 429 SVs from 61 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6624227 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 35,353,922 | 35,441,349 |
nsv6624227 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 33,680,941 | 33,768,368 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18293524 | deletion | OSC4146 | SNP array | Probe signal intensity | 5 |
nssv18295906 | deletion | OSC4560 | SNP array | Probe signal intensity | 5 |
nssv18296843 | deletion | OSC4797 | SNP array | Probe signal intensity | nssv18296842 |
nssv18320346 | deletion | OSC0991 | SNP array | Probe signal intensity | 7 |
nssv18326269 | deletion | OSC2014 | SNP array | Probe signal intensity | nssv18326013, nssv18326014, nssv18326015 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18293524 | Remapped | Perfect | NC_000017.11:g.(?_ 35353922)_(3544134 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 35,353,922 | 35,441,349 |
nssv18295906 | Remapped | Perfect | NC_000017.11:g.(?_ 35353922)_(3544134 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 35,353,922 | 35,441,349 |
nssv18296843 | Remapped | Perfect | NC_000017.11:g.(?_ 35353922)_(3544134 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 35,353,922 | 35,441,349 |
nssv18320346 | Remapped | Perfect | NC_000017.11:g.(?_ 35353922)_(3544134 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 35,353,922 | 35,441,349 |
nssv18326269 | Remapped | Perfect | NC_000017.11:g.(?_ 35353922)_(3544134 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 35,353,922 | 35,441,349 |
nssv18293524 | Submitted genomic | NC_000017.10:g.(?_ 33680941)_(3376836 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 33,680,941 | 33,768,368 | ||
nssv18295906 | Submitted genomic | NC_000017.10:g.(?_ 33680941)_(3376836 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 33,680,941 | 33,768,368 | ||
nssv18296843 | Submitted genomic | NC_000017.10:g.(?_ 33680941)_(3376836 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 33,680,941 | 33,768,368 | ||
nssv18320346 | Submitted genomic | NC_000017.10:g.(?_ 33680941)_(3376836 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 33,680,941 | 33,768,368 | ||
nssv18326269 | Submitted genomic | NC_000017.10:g.(?_ 33680941)_(3376836 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 33,680,941 | 33,768,368 |