A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053947



Internal ID18796478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24700388..24759629hg38UCSC Ensembl
Innerchr13:25274526..25333767hg19UCSC Ensembl
Innerchr13:24172526..24231767hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3859242
hg1959242
hg1859242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1621n100
Supporting Variantsnssv3523199
Samples
Known GenesATP12A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053947
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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