A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139709



Internal ID18907272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5949968..5952868hg38UCSC Ensembl
Outerchr2:6090100..6093000hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977296
SamplesKWS2
Known GenesLINC01105
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139709
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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