A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143294



Internal ID18926156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150271477..150271619hg38UCSC Ensembl
Outerchr4:151192629..151192771hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980478
SamplesKWS1
Known GenesLRBA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143294
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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