nsv6626996
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,175
- 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: 269 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 41 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6626996 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 25,822,558 | 25,852,732 |
nsv6626996 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 27,194,869 | 27,225,043 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18299021 | Remapped | Perfect | NC_000021.9:g.(?_2 5822558)_(25852732 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 25,822,558 | 25,852,732 |
nssv18299408 | Remapped | Perfect | NC_000021.9:g.(?_2 5822558)_(25852732 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 25,822,558 | 25,852,732 |
nssv18300890 | Remapped | Perfect | NC_000021.9:g.(?_2 5822558)_(25852732 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 25,822,558 | 25,852,732 |
nssv18299021 | Submitted genomic | NC_000021.8:g.(?_2 7194869)_(27225043 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,194,869 | 27,225,043 | ||
nssv18299408 | Submitted genomic | NC_000021.8:g.(?_2 7194869)_(27225043 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,194,869 | 27,225,043 | ||
nssv18300890 | Submitted genomic | NC_000021.8:g.(?_2 7194869)_(27225043 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,194,869 | 27,225,043 |