A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612290



Internal ID16399699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130357985..130368852hg38UCSC Ensembl
Innerchr8:131370231..131381098hg19UCSC Ensembl
Innerchr8:131439413..131450280hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3810868
hg1910868
hg1810868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1121326
Samples
Known GenesASAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612290
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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