A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620904



Internal ID15820255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:21022574..21055236hg38UCSC Ensembl
Outerchr8:20880085..20912747hg19UCSC Ensembl
Outerchr8:20924365..20957027hg18UCSC Ensembl
Outerchr8:20924365..20957027hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg384569
hg194569
hg184569
hg174569
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509253
Supporting Variants
SamplesNA15510
Known Genes
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)nssv620904
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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