A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132494



Internal ID19253457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:92115674..92138074hg38UCSC Ensembl
Outerchr2:92303700..92326100hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3822401
hg1922401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987274
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132494
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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