A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508992



Internal ID15825018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3455794..3533692hg38UCSC Ensembl
Outerchr4:3457521..3535419hg19UCSC Ensembl
Outerchr4:3427319..3505217hg18UCSC Ensembl
Outerchr4:3494490..3572388hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg383690
hg193690
hg183690
hg173690
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619366
SamplesNA10860
Known GenesDOK7, LRPAP1
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)nsv508992
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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