A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508908



Internal ID15824934
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 StatusM
Merged Variants
Supporting Variantsnssv623368, nssv621193
SamplesNA15510, NA18994
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)nsv508908
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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