A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547613



Internal ID16335022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:118499620..118560216hg38UCSC Ensembl
Innerchr1:119042243..119102839hg19UCSC Ensembl
Innerchr1:118843766..118904362hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3860597
hg1960597
hg1860597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723006
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547613
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