A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560438



Internal ID16001161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120756762..120914403hg38UCSC Ensembl
Innerchr12:121194565..121352206hg19UCSC Ensembl
Innerchr12:119678948..119836589hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38157642
hg19157642
hg18157642
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803399
Samples
Known GenesSPPL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560438
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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