A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619521



Internal ID15818102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:9769996..9786425hg38UCSC Ensembl
Outerchr8:9627506..9643935hg19UCSC Ensembl
Outerchr8:9664916..9681345hg18UCSC Ensembl
Outerchr8:9664916..9681345hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383049
hg193049
hg183049
hg173049
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509251
Supporting Variants
SamplesNA10860
Known GenesTNKS
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv619521
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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