A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619870



Internal ID15471765
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 StatusS
Merged Variantsnsv509810
Supporting Variants
SamplesNA10860
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)nssv619870
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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