A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509546



Internal ID15477044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161543042..161684642hg38UCSC Ensembl
Outerchr1:161512832..161654432hg19UCSC Ensembl
Outerchr1:159779456..159921056hg18UCSC Ensembl
Outerchr1:158325887..158386089hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3881664
hg1981664
hg1881664
hg1781664
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621106, nssv617996, nssv619818, nssv623804
SamplesCHM, NA18994, NA15510, NA10860
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7, RPL31P11
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)nsv509546
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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