A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv657074



Internal ID15047040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:50356597..50373175hg38UCSC Ensembl
Innerchr17:48433958..48450536hg19UCSC Ensembl
Innerchr17:45788957..45805535hg18UCSC Ensembl
Innerchr17:45788957..45805535hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3816579
hg1916579
hg1816579
hg1716579
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519530
Supporting Variants
Samples
Known GenesMRPL27, XYLT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv657074
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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