A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994954



Internal ID18878555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12293691..12317091hg38UCSC Ensembl
Outerchr8:12151200..12174600hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3823401
hg1923401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144223
Supporting Variants
SamplesKWS1
Known GenesDEFB130, LOC100133267
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994954
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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