A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049179



Internal ID18791710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85662598..86405410hg38UCSC Ensembl
Innerchr12:86056376..86799188hg19UCSC Ensembl
Innerchr12:84580507..85323319hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38742813
hg19742813
hg18742813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712582
Samples
Known GenesMGAT4C, NTS, RASSF9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049179
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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