nsv3919530
- 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:227,305
- Description:NCBI36/hg18 6q26(chr6:161623201-161798254)x3 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: 956 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 956 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3919530 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 161,251,032 | 161,282,179 | 161,457,232 | 161,478,336 |
| nsv3919530 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 161,672,064 | 161,703,211 | 161,878,264 | 161,899,368 |
| nsv3919530 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 161,592,054 | 161,623,201 | 161,798,254 | 161,819,358 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15127380 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000452422.2, VCV000399273.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15127380 | Remapped | Perfect | NC_000006.12:g.(16 1251032_161282179) _(161457232_161478 336)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,251,032 | 161,282,179 | 161,457,232 | 161,478,336 |
| nssv15127380 | Remapped | Perfect | NC_000006.11:g.(16 1672064_161703211) _(161878264_161899 368)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 161,672,064 | 161,703,211 | 161,878,264 | 161,899,368 |
| nssv15127380 | Submitted genomic | NC_000006.10:g.(16 1592054_161623201) _(161798254_161819 358)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 161,592,054 | 161,623,201 | 161,798,254 | 161,819,358 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15127380 | NCBI36: NC_000006.10:g.(161592054_161623201)_(161798254_161819358)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000452422.2, VCV000399273.2 | 3 |