A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3708231



Internal ID18659826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8209442..8432064hg38UCSC Ensembl
Innerchr12:8362038..8584660hg19UCSC Ensembl
Innerchr12:8253305..8475927hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38222623
hg19222623
hg18222623
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1050955
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)nssv3708231
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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