nsv3912336
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,006,642
- Description:GRCh38/hg38 6p22.1(chr6:28763187-29769828)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: 2727 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2727 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 698 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912336 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 28,763,187 | 29,769,828 |
| nsv3912336 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 28,730,964 | 29,737,605 |
| nsv3912336 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 28,838,943 | 29,845,584 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139389 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000141858.4, VCV000153490.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139389 | Submitted genomic | NC_000006.12:g.(?_ 28763187)_(2976982 8_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 28,763,187 | 29,769,828 |
| nssv15139389 | Submitted genomic | NC_000006.11:g.(?_ 28730964)_(2973760 5_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 28,730,964 | 29,737,605 |
| nssv15139389 | Submitted genomic | NC_000006.10:g.(?_ 28838943)_(2984558 4_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 28,838,943 | 29,845,584 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139389 | GRCh37: NC_000006.11:g.(?_28730964)_(29737605_?)dup, GRCh38: NC_000006.12:g.(?_28763187)_(29769828_?)dup, NCBI36: NC_000006.10:g.(?_28838943)_(29845584_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000141858.4, VCV000153490.2 | 3 |