A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112967



Internal ID19274078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:132480553..132481053hg38UCSC Ensembl
Outerchr8:133492800..133493300hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3905n106
Supporting Variantsnssv3967473
SamplesKWS2
Known GenesKCNQ3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112967
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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