A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704365



Internal ID15094331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58187656..58194136hg38UCSC Ensembl
Innerchr17:56265017..56271497hg19UCSC Ensembl
Innerchr17:53620016..53626496hg18UCSC Ensembl
Innerchr17:53620016..53626496hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg386481
hg196481
hg186481
hg176481
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517229
Supporting Variants
Samples
Known GenesEPX
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704365
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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