A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128012



Internal ID18916925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189966083..189966152hg38UCSC Ensembl
Outerchr3:189683872..189683941hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957429
SamplesKWS1
Known GenesLEPREL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128012
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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