A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509061



Internal ID15476559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33631678..33640886hg38UCSC Ensembl
Outerchr5:33631783..33640991hg19UCSC Ensembl
Outerchr5:33667540..33676748hg18UCSC Ensembl
Outerchr5:33667540..33676748hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg384976
hg194976
hg184976
hg174976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620817, nssv623442
SamplesNA18994, NA15510
Known GenesADAMTS12
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)nsv509061
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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