A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705808



Internal ID15442460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62663603..62712044hg38UCSC Ensembl
Innerchr17:60740964..60789405hg19UCSC Ensembl
Innerchr17:58094696..58143137hg18UCSC Ensembl
Innerchr17:58094696..58143137hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3848442
hg1948442
hg1848442
hg1748442
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516921
Supporting Variants
Samples
Known GenesMARCH10, MRC2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705808
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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