A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508366



Internal ID15824393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:68027761..68083688hg38UCSC Ensembl
Outerchr5:67323589..67379516hg19UCSC Ensembl
Outerchr5:67359345..67415272hg18UCSC Ensembl
Outerchr5:67359345..67415272hg17UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3855928
hg1955928
hg1855928
hg1755928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618769
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)nsv508366
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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