A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001113



Internal ID17294065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:117968539..117968867hg38UCSC Ensembl
Outerchr8:118980778..118981106hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv957689
Supporting Variants
SamplesBILGI_BIOE
Known GenesEXT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001113
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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