A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047213



Internal ID18789744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43637141..43732292hg38UCSC Ensembl
Innerchr15:43929339..44024490hg19UCSC Ensembl
Innerchr15:41716631..41811782hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3895152
hg1995152
hg1895152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2586n100
Supporting Variantsnssv3716719
Samples
Known GenesCATSPER2, CKMT1A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047213
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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