A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694261



Internal ID15430913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50693867..50732269hg38UCSC Ensembl
Innerchr5:49989701..50028103hg19UCSC Ensembl
Innerchr5:50025458..50063860hg18UCSC Ensembl
Innerchr5:50025458..50063860hg17UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3838403
hg1938403
hg1838403
hg1738403
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521214
Supporting Variants
Samples
Known GenesPARP8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694261
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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