A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139724



Internal ID18940223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:108650644..108658044hg38UCSC Ensembl
Outerchr2:109267100..109274500hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg387401
hg197401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978063
SamplesKWS2
Known GenesLIMS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139724
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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