A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051020



Internal ID18793551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:125015140..125809096hg38UCSC Ensembl
Innerchr12:125499686..126293642hg19UCSC Ensembl
Innerchr12:124065639..124859595hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38793957
hg19793957
hg18793957
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526125
Samples
Known GenesAACS, BRI3BP, TMEM132B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051020
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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