A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524810



Internal ID15105417
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700803
Samples
Known GenesUXS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524810
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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