A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3708229



Internal ID18659824
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 StatusS
Merged Variantsnsv1050188
Supporting Variants
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)nssv3708229
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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