A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622476



Internal ID15821049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:193138573..193170097hg38UCSC Ensembl
Outerchr3:192856362..192887886hg19UCSC Ensembl
Outerchr3:194339056..194370580hg18UCSC Ensembl
Outerchr3:194339064..194370588hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3831525
hg1931525
hg1831525
hg1731525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508267
Supporting Variants
SamplesNA18994
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)nssv622476
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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