A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612714



Internal ID16053437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142786489..142846817hg38UCSC Ensembl
Innerchr8:143867905..143928233hg19UCSC Ensembl
Innerchr8:143864907..143925235hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3860329
hg1960329
hg1860329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1124936
Samples
Known GenesGML, LY6D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612714
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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