A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509658



Internal ID15477156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41927491..42002888hg38UCSC Ensembl
Outerchr17:40083744..40154906hg19UCSC Ensembl
Outerchr17:37337270..37408432hg18UCSC Ensembl
Outerchr17:37337270..37408432hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386447
hg196447
hg186447
hg176447
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619714, nssv621039
SamplesNA15510, NA10860
Known GenesCNP, DNAJC7, TTC25
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)nsv509658
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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