nsv996215

  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:9,811,821
  • Description:Mosaic: Metaphase FISH studies using a probe within the duplicated interval (RP11-451M11) and a probe for the chromosome 9 centromere demonstrated the presence of a supernumerary marker chromosome derived from chromosome 9 in six out of 30 metaphases and 24.0% of interphase nuclei from a PHA-stimulated culture, as well as 16.5% of interphase nuclei from a direct unstimulated sample.
  • Publication(s):Miller et al. 2010

Genome View

Select assembly:
Overlapping variant regions from other studies: 17999 SVs from 95 studies. See in: genome view    
Remapped(Score: Perfect):28,975,663-38,787,483Question Mark
Overlapping variant regions from other studies: 18008 SVs from 95 studies. See in: genome view    
Submitted genomic28,975,661-38,787,480Question Mark
Overlapping variant regions from other studies: 7638 SVs from 41 studies. See in: genome view    
Remapped(Score: Perfect):28,965,661-38,777,480Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv996215RemappedPerfectGRCh38 (hg38)Primary AssemblyFirst PassNC_000009.12Chr928,975,66338,787,483
nsv996215Submitted genomicGRCh37 (hg19)NC_000009.11Chr928,975,66138,787,480
nsv996215RemappedPerfectNCBI36 (hg18)Primary AssemblyFirst PassNC_000009.10Chr928,965,66138,777,480

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisSubject PhenotypeClinicalClinVar IDClinVar Curation LevelCopy numberOther Calls in this Sample and Study
nssv3395409copy number gainABC16479SNP arraySNP genotyping analysisMuscular dystrophy; MyopathyLikely pathogenicSCV000183645classified by single submitter3nssv3395410

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nssv3395409RemappedPerfectNC_000009.12:g.(?_
28975663)_(3878748
3_?)dup
GRCh38 (hg38)Primary AssemblyFirst PassNC_000009.12Chr928,975,66338,787,483
nssv3395409Submitted genomicNC_000009.11:g.(?_
28975661)_(3878748
0_?)dup
GRCh37 (hg19)NC_000009.11Chr928,975,66138,787,480
nssv3395409RemappedPerfectNC_000009.10:g.(?_
28965661)_(3877748
0_?)dup
NCBI36 (hg18)Primary AssemblyFirst PassNC_000009.10Chr928,965,66138,777,480

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv339540962ABC16479FISHManual observationPass

Clinical Assertions

Variant Call IDSample IDClinVar IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationClinVar Curation LevelGenderAgeCopy numberOther Calls in this Sample and Study
nssv3395409ABC16479SCV000183645NC_000009.11:g.(?_28975661)_(38787480_?)dupcopy number gainNot testedMuscular dystrophy; MyopathyLikely pathogenicclassified by single submitterMale1 month3nssv3395410

No genotype data were submitted for this variant

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