A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688630



Internal ID15078596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9261182..9336601hg38UCSC Ensembl
Innerchr1:9321241..9396660hg19UCSC Ensembl
Innerchr1:9243828..9319247hg18UCSC Ensembl
Innerchr1:9255507..9330926hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3875420
hg1975420
hg1875420
hg1775420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520191
Supporting Variants
Samples
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688630
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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