A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125888



Internal ID19264209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:131999290..132008836hg38UCSC Ensembl
Outerchr6:132320430..132329976hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg389547
hg199547
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984095
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125888
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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