A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993912



Internal ID18885471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150942396..150942459hg38UCSC Ensembl
Outerchr4:151863548..151863611hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142407
Supporting Variants
SamplesKWS2
Known GenesLRBA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993912
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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