A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038053



Internal ID19127272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3270807..3303418hg38UCSC Ensembl
Innerchr12:3379973..3412584hg19UCSC Ensembl
Innerchr12:3250234..3282845hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3832612
hg1932612
hg1832612
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1345n100
Supporting Variantsnssv3504555
Samples
Known GenesTSPAN9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038053
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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