A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583607



Internal ID16024330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169727686..169868204hg38UCSC Ensembl
Innerchr2:170584196..170724714hg19UCSC Ensembl
Innerchr2:170292442..170432960hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38140519
hg19140519
hg18140519
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925284
Samples
Known GenesKLHL23, METTL5, PHOSPHO2-KLHL23, SSB, UBR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583607
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