A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040739



Internal ID19129958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20078801..20401433hg38UCSC Ensembl
Innerchr15:20284054..20606686hg19UCSC Ensembl
Innerchr15:18544068..18866700hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38322633
hg19322633
hg18322633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2197n100
Supporting Variantsnssv3715976
Samples
Known GenesCHEK2P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040739
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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