A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246189



Internal ID21313050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43592920..43696355hg38UCSC Ensembl
Outerchr15:43553305..43698230hg38UCSC Ensembl
Innerchr15:43885118..43988553hg19UCSC Ensembl
Outerchr15:43845503..43990428hg19UCSC Ensembl
Innerchr15:41672410..41775845hg18UCSC Ensembl
Outerchr15:41632795..41777720hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38144926
hg19144926
hg18144926
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169433
Supporting Variants
SamplesSNI_7
Known GenesCATSPER2, CKMT1A, CKMT1B, PPIP5K1, RNU6-28P, STRC
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14246189
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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