A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000864



Internal ID18847014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:43181195..43181252hg38UCSC Ensembl
Outerchr8:43036338..43036395hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149562
Supporting Variants
SamplesKWB1
Known GenesHGSNAT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000864
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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