nsv4769308
- 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:2,717,326
- Description:GRCh37/hg19 3q26.33-27.1(chr3:180834336-183551661)x1 AND Anophthalmia/microphthalmia-esophageal atresia syndrome
- Publication(s):Williamson et al. 2006
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 6414 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 6414 SVs from 92 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4769308 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 181,116,548 | 183,833,873 |
nsv4769308 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 180,834,336 | 183,551,661 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16297147 | copy number loss | Multiple | Multiple | Anophthalmia/microphthalmia-esophageal atresia syndrome; MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; Microphthalmia syndromic 3; SOX2-Related Eye Disorders | Pathogenic | ClinVar | RCV001267852.1, VCV000986761.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16297147 | Remapped | Perfect | NC_000003.12:g.(?_ 181116548)_(183833 873_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 181,116,548 | 183,833,873 |
nssv16297147 | Submitted genomic | NC_000003.11:g.(?_ 180834336)_(183551 661_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 180,834,336 | 183,551,661 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16297147 | GRCh37: NC_000003.11:g.(?_180834336)_(183551661_?)del | copy number loss | germline | Anophthalmia/microphthalmia-esophageal atresia syndrome; MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; Microphthalmia syndromic 3; SOX2-Related Eye Disorders | Pathogenic | ClinVar | RCV001267852.1, VCV000986761.1 | 1 |