A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698107



Internal ID15434759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176520497..176529270hg38UCSC Ensembl
Innerchr5:175947498..175956271hg19UCSC Ensembl
Innerchr5:175880104..175888877hg18UCSC Ensembl
Innerchr5:175880104..175888877hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg388774
hg198774
hg188774
hg178774
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516244
Supporting Variants
Samples
Known GenesRNF44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698107
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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