A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621193



Internal ID15820543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:32644629..32688084hg38UCSC Ensembl
Outerchr3:32686121..32729576hg19UCSC Ensembl
Outerchr3:32661125..32704580hg18UCSC Ensembl
Outerchr3:32661125..32704580hg17UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg383137
hg193137
hg183137
hg173137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508908
Supporting Variants
SamplesNA15510
Known GenesCNOT10
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)nssv621193
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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