A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508840



Internal ID15824866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:57821581..57839603hg38UCSC Ensembl
Outerchr2:58048716..58066738hg19UCSC Ensembl
Outerchr2:57902220..57920242hg18UCSC Ensembl
Outerchr2:57960367..57978389hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg384371
hg194371
hg184371
hg174371
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619903, nssv623867, nssv618004, nssv621168
SamplesCHM, NA15510, NA18994, 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)nsv508840
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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