A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045129



Internal ID18787660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22455908..23199681hg38UCSC Ensembl
Innerchr15:22673387..23417273hg19UCSC Ensembl
Innerchr15:20224751..20968714hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38743774
hg19743887
hg18743964
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2407n100
Supporting Variantsnssv3538844, nssv3715528, nssv3538841, nssv3538843, nssv3715527, nssv3538842, nssv3538840
Samples
Known GenesCYFIP1, GOLGA6L1, GOLGA8DP, GOLGA8I, HERC2P2, HERC2P7, 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)nsv1045129
Frequency
Sample Size29084
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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