A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001271



Internal ID19188125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1001196..1004990hg38UCSC Ensembl
Outerchr8:951196..954990hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg383795
hg193795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153354
Supporting Variants
SamplesKWB1
Known GenesERICH1-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001271
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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