A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042997



Internal ID19132216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22624675..23192004hg38UCSC Ensembl
Innerchr15:22681064..23248421hg19UCSC Ensembl
Innerchr15:20232428..20799862hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38567330
hg19567358
hg18567435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2406n100
Supporting Variantsnssv3715531
Samples
Known GenesCYFIP1, GOLGA6L1, GOLGA8DP, LOC283683, NIPA1, NIPA2, TUBGCP5, WHAMMP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042997
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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