A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978181



Internal ID19232585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:106420199..106431199hg38UCSC Ensembl
Outerchr5:105755900..105766900hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3811001
hg1911001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139845
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978181
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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