A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509087



Internal ID15476585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134431054..134599687hg38UCSC Ensembl
Outerchr5:133766745..133935377hg19UCSC Ensembl
Outerchr5:133794644..133963276hg18UCSC Ensembl
Outerchr5:133794644..133963276hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg384303
hg194303
hg184303
hg174303
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619423, nssv620833
SamplesNA15510, NA10860
Known GenesJADE2, LOC101927934, LOC102546229
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)nsv509087
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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