A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583182



Internal ID16370591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:138006744..138011530hg38UCSC Ensembl
Innerchr2:138764314..138769100hg19UCSC Ensembl
Innerchr2:138480784..138485570hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg384787
hg194787
hg184787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920106
Samples
Known GenesHNMT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583182
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