A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050081



Internal ID18792612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8225643..8432064hg38UCSC Ensembl
Innerchr12:8378239..8584660hg19UCSC Ensembl
Innerchr12:8269506..8475927hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38206422
hg19206422
hg18206422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1360n100
Supporting Variantsnssv3708236, nssv3708237
Samples
Known GenesFAM86FP, FAM90A1, LINC00937
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050081
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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