nsv3897747
- 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:41,583,844
- Description:GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)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: 112957 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 112883 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 29964 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3897747 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 207,346,642 | 248,930,485 |
| nsv3897747 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 207,519,987 | 249,224,684 |
| nsv3897747 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 205,586,610 | 247,191,307 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146793 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143727.6, VCV000155660.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146793 | Submitted genomic | NC_000001.11:g.(?_ 207346642)_(248930 485_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 207,346,642 | 248,930,485 |
| nssv15146793 | Submitted genomic | NC_000001.10:g.(?_ 207519987)_(249224 684_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 207,519,987 | 249,224,684 |
| nssv15146793 | Submitted genomic | NC_000001.9:g.(?_2 05586610)_(2471913 07_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 205,586,610 | 247,191,307 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146793 | GRCh37: NC_000001.10:g.(?_207519987)_(249224684_?)dup, GRCh38: NC_000001.11:g.(?_207346642)_(248930485_?)dup, NCBI36: NC_000001.9:g.(?_205586610)_(247191307_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143727.6, VCV000155660.2 | 3 |