nsv4685755
- 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:1,188,175
- Description:GRCh37/hg19 12p11.1(chr12:33526428-34714602)x3 AND Global developmental delay
- Publication(s):Manickam et al. 2021, Michelson et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3768 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 3768 SVs from 109 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4685755 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 33,373,493 | 34,561,667 |
nsv4685755 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 33,526,428 | 34,714,602 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16216731 | copy number gain | Multiple | Multiple | Global developmental delay; Global developmental delay | Uncertain significance | ClinVar | RCV001250491.1, VCV000973850.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16216731 | Remapped | Perfect | NC_000012.12:g.(?_ 33373493)_(3456166 7_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 33,373,493 | 34,561,667 |
nssv16216731 | Submitted genomic | NC_000012.11:g.(?_ 33526428)_(3471460 2_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 33,526,428 | 34,714,602 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16216731 | GRCh37: NC_000012.11:g.(?_33526428)_(34714602_?)dup | copy number gain | unknown | Global developmental delay; Global developmental delay | Uncertain significance | ClinVar | RCV001250491.1, VCV000973850.1 | 3 |