A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509712



Internal ID15477210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:391096..558643hg38UCSC Ensembl
Outerchr19:391096..558643hg19UCSC Ensembl
Outerchr19:342096..509643hg18UCSC Ensembl
Outerchr19:342096..509643hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg389776
hg199776
hg189776
hg179776
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619741
SamplesNA10860
Known GenesC2CD4C, CDC34, GZMM, MADCAM1, ODF3L2, SHC2, TPGS1
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)nsv509712
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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