A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117425



Internal ID19277241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:172787215..172787309hg38UCSC Ensembl
Outerchr5:172214218..172214312hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979902, nssv3963380
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117425
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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