A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583600



Internal ID16024323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168900420..168942500hg38UCSC Ensembl
Innerchr2:169756930..169799010hg19UCSC Ensembl
Innerchr2:169465176..169507256hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3842081
hg1942081
hg1842081
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151330
Samples1780854449_A
Known GenesABCB11, G6PC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583600
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