A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582712



Internal ID16023435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113174854..113227593hg38UCSC Ensembl
Innerchr2:113932431..113985170hg19UCSC Ensembl
Innerchr2:113648902..113701641hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3852740
hg1952740
hg1852740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916097
Samples
Known GenesPAX8, PSD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582712
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