A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508739



Internal ID15824766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43380243..43453999hg38UCSC Ensembl
Outerchr22:43776249..43849899hg19UCSC Ensembl
Outerchr22:42106193..42179843hg18UCSC Ensembl
Outerchr22:42100747..42174397hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385225
hg195225
hg185225
hg175225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621153
SamplesNA15510
Known GenesMPPED1
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)nsv508739
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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