nsv918072
- Organism: Homo sapiens
- Study:nstd75 (ClinGen Prenatal)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:75,114
- Publication(s):Wapner et al. 2012
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2237 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1977 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1287 SVs from 31 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 |
---|---|---|---|---|---|---|---|---|---|
nsv918072 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 46,489,592 | 46,564,705 |
nsv918072 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 47,006,954 | 47,074,862 |
nsv918072 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 46,404,918 | 46,494,868 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
---|---|---|---|---|---|---|---|---|
nssv1607341 | copy number gain | ISCA_ID_pn_722 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1607341 | Remapped | Pass | NC_000010.11:g.(?_ 46489592)_(4656470 5_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,489,592 | 46,564,705 |
nssv1607341 | Remapped | Pass | NC_000010.10:g.(?_ 47006954)_(4707486 2_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 47,006,954 | 47,074,862 |
nssv1607341 | Submitted genomic | NC_000010.9:g.(?_4 6404918)_(46494868 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,918 | 46,494,868 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Age | Copy number |
---|---|---|---|---|---|---|---|---|---|
nssv1607341 | ISCA_ID_pn_722 | NCBI36: NC_000010.9:g.(?_46404918)_(46494868_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Female | 12 weeks gestation | 3 |