A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132490



Internal ID19278387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:90340937..90388837hg38UCSC Ensembl
Outerchr2:90385200..90433100hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3847901
hg1947901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1958n106
Supporting Variantsnssv3987270
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132490
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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