A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051608



Internal ID19140827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20248994..20796091hg38UCSC Ensembl
Innerchr15:20454247..21001420hg19UCSC Ensembl
Innerchr15:18714261..19261474hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38547098
hg19547174
hg18547214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2210n100
Supporting Variantsnssv3534822
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051608
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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