A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588916



Internal ID16029639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33361657..33364063hg38UCSC Ensembl
Innerchr22:33757643..33760049hg19UCSC Ensembl
Innerchr22:32087643..32090049hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382407
hg192407
hg182407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8088n54
Supporting Variantsnssv954667, nssv954671, nssv954670, nssv954669, nssv954668, nssv954672, nssv954673
Samples
Known GenesLARGE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588916
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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