A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700803



Internal ID15090769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:106109472..106113536hg38UCSC Ensembl
Innerchr2:106725928..106729992hg19UCSC Ensembl
Innerchr2:106092360..106096424hg18UCSC Ensembl
Innerchr2:106184446..106188510hg17UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg384065
hg194065
hg184065
hg174065
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524810
Supporting Variants
Samples
Known GenesUXS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700803
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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