A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618727



Internal ID15471845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:148743087..148824733hg38UCSC Ensembl
Outerchr3:148460874..148542520hg19UCSC Ensembl
Outerchr3:149943564..150025210hg18UCSC Ensembl
Outerchr3:149943572..150025218hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3881647
hg1981647
hg1881647
hg1781647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508256
Supporting Variants
SamplesNA10860
Known Genes
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)nssv618727
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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