A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591362



Internal ID16032085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119187595..119229308hg38UCSC Ensembl
Innerchr3:118906442..118948155hg19UCSC Ensembl
Innerchr3:120389132..120430845hg18UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3841714
hg1941714
hg1841714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971662
Samples
Known GenesB4GALT4, UPK1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591362
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