A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703812



Internal ID15093778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:6497555..6501574hg38UCSC Ensembl
Innerchr11:6518785..6522804hg19UCSC Ensembl
Innerchr11:6475361..6479380hg18UCSC Ensembl
Innerchr11:6475361..6479380hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg384020
hg194020
hg184020
hg174020
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515990
Supporting Variants
Samples
Known GenesDNHD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703812
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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