A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130461



Internal ID19285341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49160316..49160639hg38UCSC Ensembl
Outerchr3:49197749..49198072hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2523n106
Supporting Variantsnssv3986202, nssv3965253
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130461
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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