A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621050



Internal ID15820400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:46942006..47047880hg38UCSC Ensembl
Outerchr18:44521969..44574251hg19UCSC Ensembl
Outerchr18:42775967..42828249hg18UCSC Ensembl
Outerchr18:42775967..42828249hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3816990
hg1916990
hg1816990
hg1716990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509693
Supporting Variants
SamplesNA15510
Known GenesKATNAL2, TCEB3B, TCEB3C, TCEB3CL, TCEB3CL2
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)nssv621050
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