A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510715



Internal ID15478211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46452629..46671907hg38UCSC Ensembl
Outerchr17:44529995..44749273hg19UCSC Ensembl
Outerchr17:41885305..42104457hg18UCSC Ensembl
Outerchr17:41885305..42104457hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38219279
hg19219279
hg18219153
hg17219153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622720
SamplesNA18994
Known GenesARL17A, ARL17B, LRRC37A2, NSF, NSFP1
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)nsv510715
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