A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560966



Internal ID16001689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132194518..132483313hg38UCSC Ensembl
Innerchr12:132679063..133059899hg19UCSC Ensembl
Innerchr12:131245016..131569972hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38288796
hg19380837
hg18324957
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805507
Samples
Known GenesGALNT9, LOC100130238
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560966
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