A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042827



Internal ID19132046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20235273..20410584hg38UCSC Ensembl
Innerchr15:20440526..20615837hg19UCSC Ensembl
Innerchr15:18700540..18875851hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38175312
hg19175312
hg18175312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2220n100
Supporting Variantsnssv3539447
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042827
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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