A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053395



Internal ID18795926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31108764..31249756hg38UCSC Ensembl
Innerchr12:31261698..31402690hg19UCSC Ensembl
Innerchr12:31152965..31293957hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38140993
hg19140993
hg18140993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1417n100
Supporting Variantsnssv3520553, nssv3518651, nssv3518933, nssv3504097
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053395
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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