A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549376



Internal ID15990099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234607491..234610086hg38UCSC Ensembl
Innerchr1:234743237..234745832hg19UCSC Ensembl
Innerchr1:232809860..232812455hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382596
hg192596
hg182596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv859n54
Supporting Variantsnssv738154
Samples
Known GenesIRF2BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549376
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