nsv3915755
- 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:237,589
- Description:NCBI36/hg18 10q26.3(chr10:133386735-133527514)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: 1395 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1180 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 257 SVs from 18 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3915755 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 131,684,529 | 131,684,529 | 131,922,117 | 131,922,117 |
nsv3915755 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 133,516,865 | 133,516,865 | 133,735,621 | 133,735,621 |
nsv3915755 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 133,366,855 | 133,386,735 | 133,527,514 | 133,585,611 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15127112 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000450258.2, VCV000398645.2 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15127112 | Remapped | Pass | NC_000010.11:g.(13 1684529_131684529) _(131922117_131922 117)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 131,684,529 | 131,684,529 | 131,922,117 | 131,922,117 |
nssv15127112 | Remapped | Perfect | NC_000010.10:g.(13 3516865_133516865) _(133735621_133735 621)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 133,516,865 | 133,516,865 | 133,735,621 | 133,735,621 |
nssv15127112 | Submitted genomic | NC_000010.9:g.(133 366855_133386735)_ (133527514_1335856 11)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 133,366,855 | 133,386,735 | 133,527,514 | 133,585,611 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15127112 | NCBI36: NC_000010.9:g.(133366855_133386735)_(133527514_133585611)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000450258.2, VCV000398645.2 | 3 |