A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549409



Internal ID15990132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236713676..236714968hg38UCSC Ensembl
Innerchr1:236876976..236878268hg19UCSC Ensembl
Innerchr1:234943599..234944891hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381293
hg191293
hg181293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv865n54
Supporting Variantsnssv738844, nssv738847, nssv738845, nssv738846
Samples
Known GenesACTN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549409
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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