A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557425



Internal ID16344834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9480876..9577831hg38UCSC Ensembl
Innerchr12:9633472..9730427hg19UCSC Ensembl
Innerchr12:9524739..9621694hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3896956
hg1996956
hg1896956
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2349n54
Supporting Variantsnssv787910, nssv787913, nssv787911, nssv787912
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557425
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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