nsv917675
- Organism: Homo sapiens
- Study:nstd75 (ClinGen Prenatal)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- 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: 183118 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 182925 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 61147 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv917675 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,175 |
| nsv917675 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,058 |
| nsv917675 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 1,543 | 76,116,030 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv1605249 | copy number gain | ISCA_ID_pn_1014 | Oligo aCGH | Probe signal intensity | Ventricular septal defect | Pathogenic | Submitter | 3 |
| nssv1605693 | copy number gain | ISCA_ID_pn_1409 | Oligo aCGH | Probe signal intensity | Ventricular septal defect | Pathogenic | Submitter | 3 |
| nssv1606271 | copy number gain | ISCA_ID_pn_194 | Oligo aCGH | Probe signal intensity | Intrauterine growth retardation | Pathogenic | Submitter | 3 |
| nssv1606415 | copy number gain | ISCA_ID_pn_2050 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Pathogenic | Submitter | 3 |
| nssv1606434 | copy number gain | ISCA_ID_pn_2066 | Oligo aCGH | Probe signal intensity | Intrauterine growth retardation | Pathogenic | Submitter | 3 |
| nssv1606682 | copy number gain | ISCA_ID_pn_2284 | Oligo aCGH | Probe signal intensity | Increased nuchal translucency | Pathogenic | Submitter | 3 |
| nssv1606983 | copy number gain | ISCA_ID_pn_402 | Oligo aCGH | Probe signal intensity | Abnormality of the posterior cranial fossa | Pathogenic | Submitter | 3 |
| nssv1607159 | copy number gain | ISCA_ID_pn_559 | Oligo aCGH | Probe signal intensity | Increased nuchal translucency | Pathogenic | Submitter | 3 |
| nssv1607389 | copy number gain | ISCA_ID_pn_77 | Oligo aCGH | Probe signal intensity | Increased nuchal translucency | Pathogenic | Submitter | 3 |
| nssv1607423 | copy number gain | ISCA_ID_pn_80 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Pathogenic | Submitter | 3 |
| nssv1607448 | copy number gain | ISCA_ID_pn_818 | Oligo aCGH | Probe signal intensity | Hypoplastic heart | Pathogenic | Submitter | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1605249 | Remapped | Pass | NC_000018.10:g.(?_ 11543)_(80257175_? )dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,175 |
| nssv1605693 | Remapped | Pass | NC_000018.10:g.(?_ 11543)_(80257175_? )dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,175 |
| nssv1606271 | Remapped | Pass | NC_000018.10:g.(?_ 11543)_(80257175_? )dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,175 |
| nssv1606415 | Remapped | Pass | NC_000018.10:g.(?_ 11543)_(80257175_? )dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,175 |
| nssv1606434 | Remapped | Pass | NC_000018.10:g.(?_ 11543)_(80257175_? )dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,175 |
| nssv1606682 | Remapped | Pass | NC_000018.10:g.(?_ 11543)_(80257175_? )dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,175 |
| nssv1606983 | Remapped | Pass | NC_000018.10:g.(?_ 11543)_(80257175_? )dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,175 |
| nssv1607159 | Remapped | Pass | NC_000018.10:g.(?_ 11543)_(80257175_? )dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,175 |
| nssv1607389 | Remapped | Pass | NC_000018.10:g.(?_ 11543)_(80257175_? )dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,175 |
| nssv1607423 | Remapped | Pass | NC_000018.10:g.(?_ 11543)_(80257175_? )dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,175 |
| nssv1607448 | Remapped | Pass | NC_000018.10:g.(?_ 11543)_(80257175_? )dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,175 |
| nssv1605249 | Remapped | Good | NC_000018.9:g.(?_1 1543)_(78015058_?) dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,058 |
| nssv1605693 | Remapped | Good | NC_000018.9:g.(?_1 1543)_(78015058_?) dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,058 |
| nssv1606271 | Remapped | Good | NC_000018.9:g.(?_1 1543)_(78015058_?) dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,058 |
| nssv1606415 | Remapped | Good | NC_000018.9:g.(?_1 1543)_(78015058_?) dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,058 |
| nssv1606434 | Remapped | Good | NC_000018.9:g.(?_1 1543)_(78015058_?) dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,058 |
| nssv1606682 | Remapped | Good | NC_000018.9:g.(?_1 1543)_(78015058_?) dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,058 |
| nssv1606983 | Remapped | Good | NC_000018.9:g.(?_1 1543)_(78015058_?) dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,058 |
| nssv1607159 | Remapped | Good | NC_000018.9:g.(?_1 1543)_(78015058_?) dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,058 |
| nssv1607389 | Remapped | Good | NC_000018.9:g.(?_1 1543)_(78015058_?) dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,058 |
| nssv1607423 | Remapped | Good | NC_000018.9:g.(?_1 1543)_(78015058_?) dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,058 |
| nssv1607448 | Remapped | Good | NC_000018.9:g.(?_1 1543)_(78015058_?) dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,058 |
| nssv1605249 | Submitted genomic | NC_000018.8:g.(?_1 543)_(76116030_?)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 1,543 | 76,116,030 | ||
| nssv1605693 | Submitted genomic | NC_000018.8:g.(?_1 543)_(76116030_?)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 1,543 | 76,116,030 | ||
| nssv1606271 | Submitted genomic | NC_000018.8:g.(?_1 543)_(76116030_?)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 1,543 | 76,116,030 | ||
| nssv1606415 | Submitted genomic | NC_000018.8:g.(?_1 543)_(76116030_?)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 1,543 | 76,116,030 | ||
| nssv1606434 | Submitted genomic | NC_000018.8:g.(?_1 543)_(76116030_?)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 1,543 | 76,116,030 | ||
| nssv1606682 | Submitted genomic | NC_000018.8:g.(?_1 543)_(76116030_?)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 1,543 | 76,116,030 | ||
| nssv1606983 | Submitted genomic | NC_000018.8:g.(?_1 543)_(76116030_?)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 1,543 | 76,116,030 | ||
| nssv1607159 | Submitted genomic | NC_000018.8:g.(?_1 543)_(76116030_?)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 1,543 | 76,116,030 | ||
| nssv1607389 | Submitted genomic | NC_000018.8:g.(?_1 543)_(76116030_?)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 1,543 | 76,116,030 | ||
| nssv1607423 | Submitted genomic | NC_000018.8:g.(?_1 543)_(76116030_?)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 1,543 | 76,116,030 | ||
| nssv1607448 | Submitted genomic | NC_000018.8:g.(?_1 543)_(76116030_?)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 1,543 | 76,116,030 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv1605249 | 3 | ISCA_ID_pn_1014 | Karyotyping | Manual observation | Pass |
| nssv1605693 | 3 | ISCA_ID_pn_1409 | Karyotyping | Manual observation | Pass |
| nssv1606271 | 3 | ISCA_ID_pn_194 | Karyotyping | Manual observation | Pass |
| nssv1606415 | 3 | ISCA_ID_pn_2050 | Karyotyping | Manual observation | Pass |
| nssv1606434 | 3 | ISCA_ID_pn_2066 | Karyotyping | Manual observation | Pass |
| nssv1606682 | 3 | ISCA_ID_pn_2284 | Karyotyping | Manual observation | Pass |
| nssv1606983 | 3 | ISCA_ID_pn_402 | Karyotyping | Manual observation | Pass |
| nssv1607159 | 3 | ISCA_ID_pn_559 | Karyotyping | Manual observation | Pass |
| nssv1607389 | 3 | ISCA_ID_pn_77 | Karyotyping | Manual observation | Pass |
| nssv1607423 | 3 | ISCA_ID_pn_80 | Karyotyping | Manual observation | Pass |
| nssv1607448 | 3 | ISCA_ID_pn_818 | Karyotyping | Manual observation | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Age | Copy number |
|---|---|---|---|---|---|---|---|---|---|
| nssv1605249 | ISCA_ID_pn_1014 | NCBI36: NC_000018.8:g.(?_1543)_(76116030_?)dup | copy number gain | Ventricular septal defect | Pathogenic | Submitter | Female | 20 weeks gestation | 3 |
| nssv1605693 | ISCA_ID_pn_1409 | NCBI36: NC_000018.8:g.(?_1543)_(76116030_?)dup | copy number gain | Ventricular septal defect | Pathogenic | Submitter | Female | 21 weeks gestation | 3 |
| nssv1606271 | ISCA_ID_pn_194 | NCBI36: NC_000018.8:g.(?_1543)_(76116030_?)dup | copy number gain | Intrauterine growth retardation | Pathogenic | Submitter | Female | 25 weeks gestation | 3 |
| nssv1606415 | ISCA_ID_pn_2050 | NCBI36: NC_000018.8:g.(?_1543)_(76116030_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Pathogenic | Submitter | Male | 18 weeks gestation | 3 |
| nssv1606434 | ISCA_ID_pn_2066 | NCBI36: NC_000018.8:g.(?_1543)_(76116030_?)dup | copy number gain | Intrauterine growth retardation | Pathogenic | Submitter | Male | 18 weeks gestation | 3 |
| nssv1606682 | ISCA_ID_pn_2284 | NCBI36: NC_000018.8:g.(?_1543)_(76116030_?)dup | copy number gain | Increased nuchal translucency | Pathogenic | Submitter | Male | 12 weeks gestation | 3 |
| nssv1606983 | ISCA_ID_pn_402 | NCBI36: NC_000018.8:g.(?_1543)_(76116030_?)dup | copy number gain | Abnormality of the posterior cranial fossa | Pathogenic | Submitter | Female | 16 weeks gestation | 3 |
| nssv1607159 | ISCA_ID_pn_559 | NCBI36: NC_000018.8:g.(?_1543)_(76116030_?)dup | copy number gain | Increased nuchal translucency | Pathogenic | Submitter | Female | 10 weeks gestation | 3 |
| nssv1607389 | ISCA_ID_pn_77 | NCBI36: NC_000018.8:g.(?_1543)_(76116030_?)dup | copy number gain | Increased nuchal translucency | Pathogenic | Submitter | Male | 12 weeks gestation | 3 |
| nssv1607423 | ISCA_ID_pn_80 | NCBI36: NC_000018.8:g.(?_1543)_(76116030_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Pathogenic | Submitter | Male | 13 weeks gestation | 3 |
| nssv1607448 | ISCA_ID_pn_818 | NCBI36: NC_000018.8:g.(?_1543)_(76116030_?)dup | copy number gain | Hypoplastic heart | Pathogenic | Submitter | Male | 11 weeks gestation | 3 |