A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047146



Internal ID18789677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22483995..23121986hg38UCSC Ensembl
Innerchr15:22751082..23389101hg19UCSC Ensembl
Innerchr15:20302446..20940542hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38637992
hg19638020
hg18638097
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2407n100
Supporting Variantsnssv3538867, nssv3715539
Samples
Known GenesCYFIP1, GOLGA8I, HERC2P2, 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)nsv1047146
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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