A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136446



Internal ID19277273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:181009533..181009622hg38UCSC Ensembl
Outerchr2:181874260..181874349hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972834
SamplesKWS2
Known GenesUBE2E3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136446
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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