A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010936



Internal ID18753469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233640365..233731575hg38UCSC Ensembl
Innerchr2:234549011..234640221hg19UCSC Ensembl
Innerchr2:234213750..234304960hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3891211
hg1991211
hg1891211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586907
Samples
Known GenesUGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010936
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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