A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049667



Internal ID19138886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74764832..74850823hg38UCSC Ensembl
Innerchr12:75158612..75244603hg19UCSC Ensembl
Innerchr12:73444879..73530870hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3885992
hg1985992
hg1885992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524640, nssv3524639
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)nsv1049667
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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