A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988180



Internal ID19224329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:119525206..119525568hg38UCSC Ensembl
Outerchr2:120282782..120283144hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142966
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988180
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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