A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558889



Internal ID16346298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51820741..51822032hg38UCSC Ensembl
Innerchr12:52214525..52215816hg19UCSC Ensembl
Innerchr12:50500792..50502083hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381292
hg191292
hg181292
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2626n54
Supporting Variantsnssv795955, nssv795953, nssv795957, nssv795956, nssv795954
Samples
Known GenesFIGNL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558889
Frequency
Sample Size17421
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer