A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582273



Internal ID16369682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78205368..78750885hg38UCSC Ensembl
Innerchr2:78432494..78978011hg19UCSC Ensembl
Innerchr2:78286002..78831519hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38545518
hg19545518
hg18545518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv913445
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582273
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