A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052853



Internal ID19142072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:88211667..88326707hg38UCSC Ensembl
Innerchr12:88605444..88720484hg19UCSC Ensembl
Innerchr12:87129575..87244615hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38115041
hg19115041
hg18115041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524802
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)nsv1052853
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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