A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045521



Internal ID18788052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7970629..8090250hg38UCSC Ensembl
Innerchr12:8123225..8242846hg19UCSC Ensembl
Innerchr12:8014492..8134113hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38119622
hg19119622
hg18119622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3515299
Samples
Known GenesC3AR1, FOXJ2, NECAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045521
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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