A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042582



Internal ID19131801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20011690..20729850hg38UCSC Ensembl
Innerchr15:20216943..20935179hg19UCSC Ensembl
Innerchr15:18476957..19195186hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38718161
hg19718237
hg18718230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2187n100
Supporting Variantsnssv3715760
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)nsv1042582
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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