A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508375



Internal ID15824402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:109251927..109288345hg38UCSC Ensembl
Outerchr5:108587628..108624046hg19UCSC Ensembl
Outerchr5:108615527..108651945hg18UCSC Ensembl
Outerchr5:108615527..108651945hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3836419
hg1936419
hg1836419
hg1736419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622530
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)nsv508375
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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