A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516799



Internal ID15444092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:69214126..69235440hg38UCSC Ensembl
Innerchr17:67210267..67231581hg19UCSC Ensembl
Innerchr17:64721862..64743176hg18UCSC Ensembl
Innerchr17:64721862..64743176hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3821315
hg1921315
hg1821315
hg1721315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv670999, nssv687866, nssv682084, nssv677274
Samples
Known GenesABCA10
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516799
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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