A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115571



Internal ID18928043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95036455..95039755hg38UCSC Ensembl
Outerchr2:95702200..95705500hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg383301
hg193301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977380
SamplesKWS2
Known GenesMAL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115571
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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