A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146130



Internal ID18850920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:143284971..143285062hg38UCSC Ensembl
Outerchr5:142664536..142664627hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999332
SamplesKWB1
Known GenesNR3C1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146130
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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