A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508361



Internal ID15824388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:60040601..60070158hg38UCSC Ensembl
Outerchr5:59336428..59365985hg19UCSC Ensembl
Outerchr5:59372185..59401742hg18UCSC Ensembl
Outerchr5:59372185..59401742hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3829558
hg1929558
hg1829558
hg1729558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619957
SamplesNA15510
Known GenesPDE4D
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)nsv508361
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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