A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508387



Internal ID8791328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:171335339..171416178hg38UCSC Ensembl
Outerchr5:170762343..170843182hg19UCSC Ensembl
Outerchr5:170694948..170775787hg18UCSC Ensembl
Outerchr5:170694948..170775787hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3880840
hg1980840
hg1880840
hg1780840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622539, nssv619966
SamplesNA18994, NA15510
Known GenesMIR3912, NPM1
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)nsv508387
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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