A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619866



Internal ID15471761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46105752..46167460hg38UCSC Ensembl
Outerchr21:47525666..47587374hg19UCSC Ensembl
Outerchr21:46350094..46411802hg18UCSC Ensembl
Outerchr21:46350094..46411802hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384460
hg194460
hg184460
hg174460
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509804
Supporting Variants
SamplesNA10860
Known GenesCOL6A2, FTCD, SPATC1L
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)nssv619866
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