A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508508



Internal ID15480184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42256602..42355479hg38UCSC Ensembl
Outerchr8:42114120..42212997hg19UCSC Ensembl
Outerchr8:42233277..42332154hg18UCSC Ensembl
Outerchr8:42233277..42332154hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3898878
hg1998878
hg1898878
hg1798878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618833, nssv622594, nssv617362
SamplesCHM, NA18994, NA10860
Known GenesIKBKB, POLB
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)nsv508508
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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