A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617475



Internal ID15816630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:67436816..67459005hg38UCSC Ensembl
Outerchr3:67487240..67509429hg19UCSC Ensembl
Outerchr3:67569930..67592119hg18UCSC Ensembl
Outerchr3:67569930..67592119hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3822190
hg1922190
hg1822190
hg1722190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508221
Supporting Variants
SamplesCHM
Known GenesSUCLG2
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)nssv617475
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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