A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044016



Internal ID18786547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20223177..20530273hg38UCSC Ensembl
Innerchr13:20797316..21104412hg19UCSC Ensembl
Innerchr13:19695316..20002412hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38307097
hg19307097
hg18307097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1612n100
Supporting Variantsnssv3523131, nssv3523132, nssv3714943
Samples
Known GenesCRYL1, GJB6, MIR4499
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044016
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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