nsv3897808
- 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:11,692
- Description:GRCh37/hg19 10q24.32(chr10:103816369-103828060)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: 80 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 23 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3897808 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 102,056,612 | 102,068,303 |
nsv3897808 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 103,816,369 | 103,828,060 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15158448 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000737289.2, VCV000600653.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15158448 | Remapped | Perfect | NC_000010.11:g.(?_ 102056612)_(102068 303_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 102,056,612 | 102,068,303 |
nssv15158448 | Submitted genomic | NC_000010.10:g.(?_ 103816369)_(103828 060_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 103,816,369 | 103,828,060 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15158448 | GRCh37: NC_000010.10:g.(?_103816369)_(103828060_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000737289.2, VCV000600653.2 | 1 |