A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623431



Internal ID15822004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:579008..720373hg38UCSC Ensembl
Outerchr5:579123..720488hg19UCSC Ensembl
Outerchr5:632123..773488hg18UCSC Ensembl
Outerchr5:632123..773488hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385995
hg195995
hg185995
hg175995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509042
Supporting Variants
SamplesNA18994
Known GenesCEP72, LOC100996325, TPPP
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)nssv623431
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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