A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049805



Internal ID18792336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16284461..16498558hg38UCSC Ensembl
Innerchr12:16437395..16651492hg19UCSC Ensembl
Innerchr12:16328662..16542759hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38214098
hg19214098
hg18214098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3512254
Samples
Known GenesMGST1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049805
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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