A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509810



Internal ID15477308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:20489903..20516830hg38UCSC Ensembl
Outerchr22:20844190..20871117hg19UCSC Ensembl
Outerchr22:19174190..19201117hg18UCSC Ensembl
Outerchr22:19168744..19195671hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384883
hg194883
hg184883
hg174883
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621143, nssv619870, nssv623844
SamplesNA15510, NA18994, NA10860
Known GenesKLHL22, MED15
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)nsv509810
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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