A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138902



Internal ID18907492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233704271..233704332hg38UCSC Ensembl
Outerchr2:234612917..234612978hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991512
SamplesKWS2
Known GenesUGT1A10, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138902
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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