A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678272



Internal ID15414924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4286563..4345104hg38UCSC Ensembl
Innerchr17:4189858..4248399hg19UCSC Ensembl
Innerchr17:4136607..4195148hg18UCSC Ensembl
Innerchr17:4136607..4195148hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3858542
hg1958542
hg1858542
hg1758542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515940
Supporting Variants
Samples
Known GenesUBE2G1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv678272
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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