A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125858



Internal ID19251746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:171690377..171690496hg38UCSC Ensembl
Outerchr5:171117381..171117500hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984065, nssv3962126
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125858
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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