A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996080



Internal ID19195009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:48192768..48192903hg38UCSC Ensembl
Outerchr8:49105328..49105463hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150608
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996080
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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