nsv3871524
- 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:1,818,077
- Description:NC_000009.11:g.(?_34458984)_(36277059_?)dup AND multiple conditions
- Publication(s):Kinsley et al. 2001
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4651 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 4657 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3871524 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 34,458,986 | 36,277,062 |
| nsv3871524 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 34,458,984 | 36,277,059 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15145139 | duplication | Multiple | Multiple | AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16; Amyotrophic lateral sclerosis 16, juvenile; Distal hereditary motor neuropathy, Jerash type; Distal spinal muscular atrophy, autosomal recessive 2; Juvenile amyotrophic lateral sclerosis; SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2; Server error < EMBL-EBI | Uncertain significance | ClinVar | RCV000708492.1, VCV000584345.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15145139 | Remapped | Perfect | NC_000009.12:g.(?_ 34458986)_(3627706 2_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 34,458,986 | 36,277,062 |
| nssv15145139 | Submitted genomic | NC_000009.11:g.(?_ 34458984)_(3627705 9_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 34,458,984 | 36,277,059 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15145139 | GRCh37: NC_000009.11:g.(?_34458984)_(36277059_?)dup | duplication | germline | AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16; Amyotrophic lateral sclerosis 16, juvenile; Distal hereditary motor neuropathy, Jerash type; Distal spinal muscular atrophy, autosomal recessive 2; Juvenile amyotrophic lateral sclerosis; SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2; Server error < EMBL-EBI | Uncertain significance | ClinVar | RCV000708492.1, VCV000584345.1 |