A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583149



Internal ID16023872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132276581..132590510hg38UCSC Ensembl
Innerchr2:133034154..133348083hg19UCSC Ensembl
Innerchr2:132750624..133064553hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38313930
hg19313930
hg18313930
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7085n54
Supporting Variantsnssv920069, nssv920068
Samples
Known GenesGPR39
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583149
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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