A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978151



Internal ID19231365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:49496083..49543683hg38UCSC Ensembl
Outerchr4:49498100..49545700hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3847601
hg1947601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139815
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978151
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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