A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702172



Internal ID15438824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40231788..40248785hg38UCSC Ensembl
Innerchr17:38388040..38405037hg19UCSC Ensembl
Innerchr17:35641566..35658563hg18UCSC Ensembl
Innerchr17:35641566..35658563hg17UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg3816998
hg1916998
hg1816998
hg1716998
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525961
Supporting Variants
Samples
Known GenesWIPF2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702172
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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