A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623527



Internal ID15475414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6979349..6979349hg38UCSC Ensembl
Outerchr8:6836871..6836871hg19UCSC Ensembl
Outerchr8:6824281..6824281hg18UCSC Ensembl
Outerchr8:6824281..6824281hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3838708
hg1938708
hg1838708
hg1738708
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509248
Supporting Variants
SamplesNA18994
Known GenesDEFA1, DEFA1B
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)nssv623527
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