A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509253



Internal ID15825279
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
hg383856
hg193856
hg183856
hg173856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620904, nssv619522
SamplesNA15510, NA10860
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)nsv509253
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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