A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1151030



Internal ID18852409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179214148..179214222hg38UCSC Ensembl
Outerchr5:178641149..178641223hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001962
SamplesKWB1
Known GenesADAMTS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1151030
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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