A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704887



Internal ID15441539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:5434824..5452726hg38UCSC Ensembl
Innerchr5:5434937..5452839hg19UCSC Ensembl
Innerchr5:5487937..5505839hg18UCSC Ensembl
Innerchr5:5487937..5505839hg17UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg3817903
hg1917903
hg1817903
hg1717903
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528309
Supporting Variants
Samples
Known GenesKIAA0947
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704887
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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