A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509726



Internal ID15825752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19720908..19787755hg38UCSC Ensembl
Outerchr19:19831717..19898564hg19UCSC Ensembl
Outerchr19:19692717..19759564hg18UCSC Ensembl
Outerchr19:19692717..19759564hg17UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg383266
hg193266
hg183266
hg173266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621062, nssv623752
SamplesNA15510, NA18994
Known GenesLINC00663, ZNF14
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)nsv509726
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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