A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139938



Internal ID19278546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85714271..85828671hg38UCSC Ensembl
Outerchr8:86726500..86840900hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38114401
hg19114401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978274, nssv3987461
SamplesKWS2, KWS1
Known GenesREXO1L1, REXO1L2P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139938
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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