A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573742



Internal ID16014465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89647834..89648410hg38UCSC Ensembl
Innerchr16:89714242..89714818hg19UCSC Ensembl
Innerchr16:88241743..88242319hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38577
hg19577
hg18577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5323n54
Supporting Variantsnssv863340, nssv863339
Samples
Known GenesCHMP1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573742
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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