A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801897



Internal ID15749167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:107448429..108068129hg38UCSC Ensembl
Innerchr12:107842206..108461906hg19UCSC Ensembl
Innerchr12:106366336..106986036hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38619701
hg19619701
hg18619701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560091
Supporting Variants
Samples
Known GenesASCL4, BTBD11, LOC728739, PRDM4, PWP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801897
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