A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509642



Internal ID15825668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:191012..394464hg38UCSC Ensembl
Outerchr17:40803..244255hg19UCSC Ensembl
Outerchr17:40803..244255hg18UCSC Ensembl
Outerchr17:40803..244255hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg383240
hg193240
hg183240
hg173240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619702, nssv619703, nssv619701
SamplesNA10860
Known GenesLOC100506388, RPH3AL
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)nsv509642
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