A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508305



Internal ID15824332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:112106233..112123296hg38UCSC Ensembl
Outerchr4:113027389..113044452hg19UCSC Ensembl
Outerchr4:113246838..113263901hg18UCSC Ensembl
Outerchr4:113384993..113402056hg17UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3817064
hg1917064
hg1817064
hg1717064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622497
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)nsv508305
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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