A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048538



Internal ID18791069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43622539..43721941hg38UCSC Ensembl
Innerchr15:43914737..44014139hg19UCSC Ensembl
Innerchr15:41702029..41801431hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3899403
hg1999403
hg1899403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2586n100
Supporting Variantsnssv3552326, nssv3552325
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)nsv1048538
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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