A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980254



Internal ID19209779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:134182051..134183660hg38UCSC Ensembl
Outerchr8:135194294..135195903hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381610
hg191610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118052
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980254
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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