A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041664



Internal ID19130883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20078801..20512131hg38UCSC Ensembl
Innerchr15:20284054..20717374hg19UCSC Ensembl
Innerchr15:18544068..18977388hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38433331
hg19433321
hg18433321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2200n100
Supporting Variantsnssv3540042
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)nsv1041664
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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