A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583442



Internal ID16024165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:158394135..158469413hg38UCSC Ensembl
Innerchr2:159250647..159325925hg19UCSC Ensembl
Innerchr2:158958893..159034171hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3875279
hg1975279
hg1875279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150740
Samples1782681093_A
Known GenesCCDC148, PKP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583442
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