nsv4578618
- 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:51,068
- Description:GRCh37/hg19 12p12.1(chr12:23718347-23769414)x1 AND Lamb-Shaffer syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 221 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 221 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 | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4578618 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 23,565,413 | 23,616,480 |
nsv4578618 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 23,718,347 | 23,769,414 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16091775 | copy number loss | Multiple | Multiple | 12p12.1 microdeletion syndrome; Developmental and speech delay due to SOX5 deficiency; LAMB-SHAFFER SYNDROME; LAMSHF; Lamb-shaffer syndrome | Pathogenic | ClinVar | RCV000857288.1, VCV000695075.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16091775 | Remapped | Perfect | NC_000012.12:g.(23 565413_?)_(?_23616 480)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 23,565,413 | 23,616,480 |
nssv16091775 | Submitted genomic | NC_000012.11:g.(23 718347_?)_(?_23769 414)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 23,718,347 | 23,769,414 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16091775 | GRCh37: NC_000012.11:g.(23718347_?)_(?_23769414)del | copy number loss | de novo | 12p12.1 microdeletion syndrome; Developmental and speech delay due to SOX5 deficiency; LAMB-SHAFFER SYNDROME; LAMSHF; Lamb-shaffer syndrome | Pathogenic | ClinVar | RCV000857288.1, VCV000695075.1 | 1 |