A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv673534



Internal ID15410186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:69424292..69444670hg38UCSC Ensembl
Innerchr17:67420433..67440811hg19UCSC Ensembl
Innerchr17:64932028..64952406hg18UCSC Ensembl
Innerchr17:64932028..64952406hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3820379
hg1920379
hg1820379
hg1720379
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520649
Supporting Variants
Samples
Known GenesMAP2K6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv673534
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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