A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048971



Internal ID18791502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42258174..42407402hg38UCSC Ensembl
Innerchr12:42651976..42801204hg19UCSC Ensembl
Innerchr12:40938243..41087471hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38149229
hg19149229
hg18149229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523510
Samples
Known GenesPPHLN1, ZCRB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048971
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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