A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040720



Internal ID19129939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22590297..23199681hg38UCSC Ensembl
Innerchr15:22673387..23282799hg19UCSC Ensembl
Innerchr15:20224751..20834240hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38609385
hg19609413
hg18609490
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2405n100
Supporting Variantsnssv3538819, nssv3538820
Samples
Known GenesCYFIP1, GOLGA6L1, GOLGA8DP, GOLGA8I, HERC2P2, LOC283683, MIR4509-1, MIR4509-2, MIR4509-3, 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)nsv1040720
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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