A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620833



Internal ID15473499
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
hg389263
hg199263
hg189263
hg179263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509087
Supporting Variants
SamplesNA15510
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)nssv620833
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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