A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509259



Internal ID15476757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27880219..28011054hg38UCSC Ensembl
Outerchr8:27737736..27868571hg19UCSC Ensembl
Outerchr8:27793655..27924490hg18UCSC Ensembl
Outerchr8:27793655..27924490hg17UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg384656
hg194656
hg184656
hg174656
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623532
SamplesNA18994
Known GenesMIR4287, SCARA5
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)nsv509259
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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