A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591422



Internal ID16378831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123448665..123450009hg38UCSC Ensembl
Innerchr3:123167512..123168856hg19UCSC Ensembl
Innerchr3:124650202..124651546hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381345
hg191345
hg181345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8531n54
Supporting Variantsnssv971802, nssv971801
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591422
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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