A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002588



Internal ID19188623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142501468..142501538hg38UCSC Ensembl
Outerchr8:143582829..143582899hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149077
Supporting Variants
SamplesKWB1
Known GenesBAI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002588
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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