A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509722



Internal ID15477220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14750795..14803000hg38UCSC Ensembl
Outerchr19:14861607..14913812hg19UCSC Ensembl
Outerchr19:14722607..14774812hg18UCSC Ensembl
Outerchr19:14722607..14774812hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg384091
hg194091
hg184091
hg174091
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621060
SamplesNA15510
Known GenesEMR2, OR7C1
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)nsv509722
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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