A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120319



Internal ID18924809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:15363772..15363898hg38UCSC Ensembl
Outerchr16:15457629..15457755hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961887
SamplesKWS1
Known GenesNPIPA5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120319
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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