A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509736



Internal ID15477234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33653214..33795128hg38UCSC Ensembl
Outerchr19:34144120..34286033hg19UCSC Ensembl
Outerchr19:38835960..38977873hg18UCSC Ensembl
Outerchr19:38835960..38977873hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg383914
hg193914
hg183914
hg173914
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621071, nssv621070
SamplesNA15510
Known GenesCHST8
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)nsv509736
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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