A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044606



Internal ID18787137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111885161..111989037hg38UCSC Ensembl
Innerchr12:112322965..112426841hg19UCSC Ensembl
Innerchr12:110807348..110911224hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38103877
hg19103877
hg18103877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524936
Samples
Known GenesADAM1A, MAPKAPK5, TMEM116
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044606
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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