A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508247



Internal ID15824274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:137196406..137292817hg38UCSC Ensembl
Outerchr3:136915248..137011659hg19UCSC Ensembl
Outerchr3:138397938..138494349hg18UCSC Ensembl
Outerchr3:138397946..138494357hg17UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3896412
hg1996412
hg1896412
hg1796412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622470, nssv618721
SamplesNA18994, NA10860
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)nsv508247
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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