nsv4674003
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,057,081
- Description:GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 6501 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 6501 SVs from 107 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4674003 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 9,792,338 | 11,849,418 |
nsv4674003 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 9,852,396 | 11,909,475 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16207702 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001005065.1, VCV000814053.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16207702 | Remapped | Perfect | NC_000001.11:g.(?_ 9792338)_(11849418 _?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 9,792,338 | 11,849,418 |
nssv16207702 | Submitted genomic | NC_000001.10:g.(?_ 9852396)_(11909475 _?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 9,852,396 | 11,909,475 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16207702 | GRCh37: NC_000001.10:g.(?_9852396)_(11909475_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV001005065.1, VCV000814053.1 | 1 |