A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142385



Internal ID18914545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8301061..8301160hg38UCSC Ensembl
Outerchr4:8302788..8302887hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993892
SamplesKWS2
Known GenesHTRA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142385
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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