A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523650



Internal ID15104257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78933797..79165563hg38UCSC Ensembl
Innerchr17:76929879..77161645hg19UCSC Ensembl
Innerchr17:74441474..74673240hg18UCSC Ensembl
Innerchr17:74441474..74673240hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38231767
hg19231767
hg18231767
hg17231767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699451
Samples
Known GenesC1QTNF1, C1QTNF1-AS1, CANT1, ENGASE, LGALS3BP, RBFOX3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523650
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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