nsv3914743
- 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:289,037
- Description:NCBI36/hg18 6p21.33(chr6:31362981-31589318)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: 4621 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 2265 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 882 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 4621 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 2333 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 1776 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 2503 SVs from 33 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3914743 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,268,394 | 31,287,225 | 31,513,562 | 31,557,430 |
nsv3914743 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | - | 2,584,647 | 2,755,941 | - |
nsv3914743 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,577,446 | 2,577,446 | 2,862,477 | 2,862,477 |
nsv3914743 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 31,236,171 | 31,255,002 | 31,481,339 | 31,525,207 |
nsv3914743 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | - | 2,583,945 | 2,755,239 | - |
nsv3914743 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,583,066 | 2,583,066 | 2,868,097 | 2,868,097 |
nsv3914743 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 31,344,150 | 31,362,981 | 31,589,318 | 31,633,186 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15127809 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000452164.2, VCV000400395.2 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15127809 | Remapped | Good | NT_167246.2:g.(257 7446_2577446)_(286 2477_2862477)del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,577,446 | 2,577,446 | 2,862,477 | 2,862,477 |
nssv15127809 | Remapped | Pass | NT_167249.2:g.(?_2 584647)_(2755941_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | - | 2,584,647 | 2,755,941 | - |
nssv15127809 | Remapped | Perfect | NC_000006.12:g.(31 268394_31287225)_( 31513562_31557430) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,268,394 | 31,287,225 | 31,513,562 | 31,557,430 |
nssv15127809 | Remapped | Good | NT_167246.1:g.(258 3066_2583066)_(286 8097_2868097)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,583,066 | 2,583,066 | 2,868,097 | 2,868,097 |
nssv15127809 | Remapped | Pass | NT_167249.1:g.(?_2 583945)_(2755239_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | - | 2,583,945 | 2,755,239 | - |
nssv15127809 | Remapped | Perfect | NC_000006.11:g.(31 236171_31255002)_( 31481339_31525207) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,236,171 | 31,255,002 | 31,481,339 | 31,525,207 |
nssv15127809 | Submitted genomic | NC_000006.10:g.(31 344150_31362981)_( 31589318_31633186) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,344,150 | 31,362,981 | 31,589,318 | 31,633,186 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15127809 | NCBI36: NC_000006.10:g.(31344150_31362981)_(31589318_31633186)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000452164.2, VCV000400395.2 | 1 |