A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044481



Internal ID18787012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52240677..52281537hg38UCSC Ensembl
Innerchr12:52634461..52675321hg19UCSC Ensembl
Innerchr12:50920728..50961588hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3840861
hg1940861
hg1840861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1501n100
Supporting Variantsnssv3523539
Samples
Known GenesKRT7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044481
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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