A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048041



Internal ID18790572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43553212..43698816hg38UCSC Ensembl
Innerchr15:43845410..43991014hg19UCSC Ensembl
Innerchr15:41632702..41778306hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38145605
hg19145605
hg18145605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2583n100
Supporting Variantsnssv3552282
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)nsv1048041
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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