A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700417



Internal ID15090383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80434191..80493611hg38UCSC Ensembl
Innerchr17:78407991..78467411hg19UCSC Ensembl
Innerchr17:76022586..76082006hg18UCSC Ensembl
Innerchr17:76022586..76082006hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3859421
hg1959421
hg1859421
hg1759421
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524479
Supporting Variants
Samples
Known GenesENDOV, NPTX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700417
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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