A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623838



Internal ID15475725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43152853..43199866hg38UCSC Ensembl
Outerchr21:44572963..44619976hg19UCSC Ensembl
Outerchr21:43446032..43493045hg18UCSC Ensembl
Outerchr21:43446032..43493045hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385808
hg195808
hg185808
hg175808
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509798
Supporting Variants
SamplesNA18994
Known GenesCRYAA
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)nssv623838
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