A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052544



Internal ID18795075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131792143..131871863hg38UCSC Ensembl
Innerchr12:132276688..132356408hg19UCSC Ensembl
Innerchr12:130842641..130922361hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3879721
hg1979721
hg1879721
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526380
Samples
Known GenesMMP17, SFSWAP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052544
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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