A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621071



Internal ID15473735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33738041..33795128hg38UCSC Ensembl
Outerchr19:34228946..34286033hg19UCSC Ensembl
Outerchr19:38920786..38977873hg18UCSC Ensembl
Outerchr19:38920786..38977873hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg384939
hg194939
hg184939
hg174939
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509736
Supporting Variants
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)nssv621071
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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