A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560038



Internal ID16347447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103659642..103699218hg38UCSC Ensembl
Innerchr12:104053420..104092996hg19UCSC Ensembl
Innerchr12:102577550..102617126hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3839577
hg1939577
hg1839577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801790
Samples
Known GenesSTAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560038
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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