A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518515



Internal ID15099122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73412432..73416361hg38UCSC Ensembl
Innerchr6:74122155..74126084hg19UCSC Ensembl
Innerchr6:74178876..74182805hg18UCSC Ensembl
Innerchr6:74178876..74182805hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg383930
hg193930
hg183930
hg173930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695956
Samples
Known GenesDDX43
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518515
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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