nsv917565
- Organism: Homo sapiens
- Study:nstd75 (ClinGen Prenatal)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:48,269
- 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: 1496 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1496 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 669 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv917565 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 291,534 | 339,802 |
| nsv917565 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 291,534 | 339,802 |
| nsv917565 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 236,534 | 284,802 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv1606754 | copy number loss | ISCA_ID_pn_2348 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 1 |
| nssv1607576 | copy number gain | ISCA_ID_pn_934 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1606754 | Remapped | Perfect | NC_000006.12:g.(?_ 291534)_(339802_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 291,534 | 339,802 |
| nssv1607576 | Remapped | Perfect | NC_000006.12:g.(?_ 291534)_(339802_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 291,534 | 339,802 |
| nssv1606754 | Remapped | Perfect | NC_000006.11:g.(?_ 291534)_(339802_?) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 291,534 | 339,802 |
| nssv1607576 | Remapped | Perfect | NC_000006.11:g.(?_ 291534)_(339802_?) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 291,534 | 339,802 |
| nssv1606754 | Submitted genomic | NC_000006.10:g.(?_ 236534)_(284802_?) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 236,534 | 284,802 | ||
| nssv1607576 | Submitted genomic | NC_000006.10:g.(?_ 236534)_(284802_?) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 236,534 | 284,802 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1606754 | ISCA_ID_pn_2348 | NCBI36: NC_000006.10:g.(?_236534)_(284802_?)del | copy number loss | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 11 weeks gestation | 1 |
| nssv1607576 | ISCA_ID_pn_934 | NCBI36: NC_000006.10:g.(?_236534)_(284802_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 20 weeks gestation | 3 |