A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509273



Internal ID15825299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61198260..61230601hg38UCSC Ensembl
Outerchr8:62110819..62143160hg19UCSC Ensembl
Outerchr8:62273373..62305714hg18UCSC Ensembl
Outerchr8:62273373..62305714hg17UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg383986
hg193986
hg183986
hg173986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618072, nssv623543, nssv620910
SamplesCHM, NA15510, NA18994
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)nsv509273
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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