nsv4768385
- 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:1,574,124
- Description:NCBI36/hg18 21q22.13-22.2(chr21:37662974-39236719)x1 AND Complex neurodevelopmental disorder
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4243 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 4230 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1292 SVs from 23 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4768385 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 37,368,802 | 38,942,925 |
nsv4768385 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 38,741,104 | 40,314,849 |
nsv4768385 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 37,662,974 | 39,236,719 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16296972 | copy number loss | Multiple | Multiple | Complex neurodevelopmental disorder; complex neurodevelopmental disorder | Pathogenic | ClinVar | RCV001264791.1, VCV000984687.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16296972 | Remapped | Good | NC_000021.9:g.(?_3 7368802)_(38942925 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 37,368,802 | 38,942,925 |
nssv16296972 | Remapped | Perfect | NC_000021.8:g.(?_3 8741104)_(40314849 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 38,741,104 | 40,314,849 |
nssv16296972 | Submitted genomic | NC_000021.7:g.(?_3 7662974)_(39236719 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 37,662,974 | 39,236,719 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16296972 | NCBI36: NC_000021.7:g.(?_37662974)_(39236719_?)del | copy number loss | inherited | Complex neurodevelopmental disorder; complex neurodevelopmental disorder | Pathogenic | ClinVar | RCV001264791.1, VCV000984687.1 | 1 |