A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041290



Internal ID19130509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22455908..22749423hg38UCSC Ensembl
Innerchr15:23123687..23417273hg19UCSC Ensembl
Innerchr15:20675128..20968714hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38293516
hg19293587
hg18293587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2410n100
Supporting Variantsnssv3538879
Samples
Known GenesGOLGA8I, HERC2P2, HERC2P7, WHAMMP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041290
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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