A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054620



Internal ID19143839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43600874..43721941hg38UCSC Ensembl
Innerchr15:43893072..44014139hg19UCSC Ensembl
Innerchr15:41680364..41801431hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38121068
hg19121068
hg18121068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3552322, nssv3552323, nssv3716716
Samples
Known GenesCATSPER2, CKMT1A, 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)nsv1054620
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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