A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508738



Internal ID15480414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42839659..42917996hg38UCSC Ensembl
Outerchr22:43235665..43314002hg19UCSC Ensembl
Outerchr22:41565609..41643946hg18UCSC Ensembl
Outerchr22:41560163..41638500hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383322
hg193322
hg183322
hg173322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623852, nssv619881
SamplesNA18994, NA10860
Known GenesARFGAP3, PACSIN2
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)nsv508738
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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