A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130582



Internal ID19279664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:63232306..63232616hg38UCSC Ensembl
Outerchr8:64144864..64145174hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3835n106
Supporting Variantsnssv3966899
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130582
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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