nsv5200370
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,968,091
- Description:GRCh37/hg19 3q29(chr3:195419168-197387258) AND multiple conditions
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 11318 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 11322 SVs from 120 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5200370 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,692,297 | 197,660,387 |
| nsv5200370 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,419,168 | 197,387,258 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16736615 | copy number gain | Multiple | Multiple | Atypical behavior; Behavioral abnormality; Delayed speech and language development; Delayed speech and language development | Pathogenic | ClinVar | RCV001291957.1, VCV000997056.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16736615 | Remapped | Perfect | NC_000003.12:g.(?_ 195692297)_(197660 387_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,692,297 | 197,660,387 |
| nssv16736615 | Submitted genomic | NC_000003.11:g.(?_ 195419168)_(197387 258_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,419,168 | 197,387,258 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16736615 | GRCh37: NC_000003.11:g.(?_195419168)_(197387258_?)dup | copy number gain | maternal | Atypical behavior; Behavioral abnormality; Delayed speech and language development; Delayed speech and language development | Pathogenic | ClinVar | RCV001291957.1, VCV000997056.1 |