A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508381



Internal ID15480057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:136153534..136228470hg38UCSC Ensembl
Outerchr5:135489223..135564158hg19UCSC Ensembl
Outerchr5:135517122..135592057hg18UCSC Ensembl
Outerchr5:135517122..135592057hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3874937
hg1974936
hg1874936
hg1774936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622533
SamplesNA18994
Known GenesLOC389332, SMAD5, TRPC7
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)nsv508381
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer