A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508740



Internal ID15480416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44157091..44209039hg38UCSC Ensembl
Outerchr22:44552971..44604919hg19UCSC Ensembl
Outerchr22:42884304..42936252hg18UCSC Ensembl
Outerchr22:42877872..42929820hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383356
hg193356
hg183356
hg173356
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619882
SamplesNA10860
Known GenesPARVB, PARVG
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)nsv508740
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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