A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv738140



Internal ID16032096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234478347..234478952hg38UCSC Ensembl
Innerchr1:234614093..234614698hg19UCSC Ensembl
Innerchr1:232680716..232681321hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38606
hg19606
hg18606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549370
Supporting Variants
Samples
Known GenesTARBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv738140
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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