A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039949



Internal ID18782480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43539681..43700448hg38UCSC Ensembl
Innerchr15:43831879..43992646hg19UCSC Ensembl
Innerchr15:41619171..41779938hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38160768
hg19160768
hg18160768
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3552280
Samples
Known GenesCATSPER2, CKMT1A, CKMT1B, PPIP5K1, RNU6-28P, STRC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039949
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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