nsv3923261
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,227,330
- Description:NCBI36/hg18 6p25.3-25.2(chr6:1435869-2622704)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3638 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3638 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 880 SVs from 19 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3923261 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 1,470,277 | 1,470,277 | 2,697,606 | 2,697,606 |
nsv3923261 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 1,470,512 | 1,490,870 | 2,677,705 | 2,697,840 |
nsv3923261 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 1,415,511 | 1,435,869 | 2,622,704 | 2,642,839 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15126906 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000451704.2, VCV000398869.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15126906 | Remapped | Perfect | NC_000006.12:g.(14 70277_1470277)_(26 97606_2697606)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 1,470,277 | 1,470,277 | 2,697,606 | 2,697,606 |
nssv15126906 | Remapped | Perfect | NC_000006.11:g.(14 70512_1490870)_(26 77705_2697840)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 1,470,512 | 1,490,870 | 2,677,705 | 2,697,840 |
nssv15126906 | Submitted genomic | NC_000006.10:g.(14 15511_1435869)_(26 22704_2642839)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 1,415,511 | 1,435,869 | 2,622,704 | 2,642,839 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15126906 | NCBI36: NC_000006.10:g.(1415511_1435869)_(2622704_2642839)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000451704.2, VCV000398869.2 | 1 |