A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020698



Internal ID19109917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:133405364..133430023hg38UCSC Ensembl
Innerchr6:133726502..133751161hg19UCSC Ensembl
Innerchr6:133768195..133792854hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3824660
hg1924660
hg1824660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6147n100
Supporting Variantsnssv3749540, nssv3654397
Samples
Known GenesEYA4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020698
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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