nsv4578604
- 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:43,777
- Description:GRCh37/hg19 12p12.1(chr12:23685093-23728869)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: 190 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 39 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4578604 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 23,532,159 | 23,575,935 |
nsv4578604 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 23,685,093 | 23,728,869 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16091774 | 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 | RCV000857289.1, VCV000695076.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16091774 | Remapped | Perfect | NC_000012.12:g.(23 532159_?)_(?_23575 935)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 23,532,159 | 23,575,935 |
nssv16091774 | Submitted genomic | NC_000012.11:g.(23 685093_?)_(?_23728 869)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 23,685,093 | 23,728,869 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16091774 | GRCh37: NC_000012.11:g.(23685093_?)_(?_23728869)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 | RCV000857289.1, VCV000695076.1 | 1 |