A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115594



Internal ID19257986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:242171306..242183506hg38UCSC Ensembl
Outerchr2:243152500..243164700hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3812201
hg1912201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977404
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115594
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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