A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508346



Internal ID15824373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:8249385..8275237hg38UCSC Ensembl
Outerchr5:8249498..8275350hg19UCSC Ensembl
Outerchr5:8302498..8328350hg18UCSC Ensembl
Outerchr5:8302498..8328350hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3825853
hg1925853
hg1825853
hg1725853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617507
SamplesCHM
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)nsv508346
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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