A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508356



Internal ID15824383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:53350338..53407290hg38UCSC Ensembl
Outerchr5:52646168..52703120hg19UCSC Ensembl
Outerchr5:52681925..52738877hg18UCSC Ensembl
Outerchr5:52681925..52738877hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3856953
hg1956953
hg1856953
hg1756953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618766
SamplesNA10860
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)nsv508356
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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