A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611018



Internal ID16398427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39380500..39473491hg38UCSC Ensembl
Innerchr8:39238019..39331010hg19UCSC Ensembl
Innerchr8:39357176..39450167hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3892992
hg1992992
hg1892992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12096n54
Supporting Variantsnssv1111099
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611018
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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