A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050188



Internal ID19139407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8209442..8428533hg38UCSC Ensembl
Innerchr12:8362038..8581129hg19UCSC Ensembl
Innerchr12:8253305..8472396hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38219092
hg19219092
hg18219092
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1360n100
Supporting Variantsnssv3708230, nssv3708229
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)nsv1050188
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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