A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704543



Internal ID15094509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241701917..241907429hg38UCSC Ensembl
Innerchr1:241865219..242070731hg19UCSC Ensembl
Innerchr1:239931842..240137354hg18UCSC Ensembl
Innerchr1:238191260..238396772hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38205513
hg19205513
hg18205513
hg17205513
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528015
Supporting Variants
Samples
Known GenesEXO1, WDR64
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704543
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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