nsv3918066
- 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:46,017,872
- Description:GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)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: 126409 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 126408 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 33096 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 |
|---|---|---|---|---|---|---|---|
| nsv3918066 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 152,100,512 | 198,118,383 |
| nsv3918066 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 151,818,301 | 197,845,254 |
| nsv3918066 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 153,300,991 | 199,329,651 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145927 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139435.5, VCV000150609.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145927 | Submitted genomic | NC_000003.12:g.(?_ 152100512)_(198118 383_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 152,100,512 | 198,118,383 |
| nssv15145927 | Submitted genomic | NC_000003.11:g.(?_ 151818301)_(197845 254_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 151,818,301 | 197,845,254 |
| nssv15145927 | Submitted genomic | NC_000003.10:g.(?_ 153300991)_(199329 651_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 153,300,991 | 199,329,651 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145927 | GRCh37: NC_000003.11:g.(?_151818301)_(197845254_?)dup, GRCh38: NC_000003.12:g.(?_152100512)_(198118383_?)dup, NCBI36: NC_000003.10:g.(?_153300991)_(199329651_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000139435.5, VCV000150609.2 | 3 |