A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509665



Internal ID15825691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62722859..62806049hg38UCSC Ensembl
Outerchr17:60800220..60883410hg19UCSC Ensembl
Outerchr17:58153952..58237142hg18UCSC Ensembl
Outerchr17:58153952..58237142hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg383056
hg193056
hg183056
hg173056
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621043
SamplesNA15510
Known GenesMARCH10, MIR548W
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)nsv509665
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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