A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038747



Internal ID18781278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:97620592..97672233hg38UCSC Ensembl
Innerchr12:98014370..98066011hg19UCSC Ensembl
Innerchr12:96538501..96590142hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3851642
hg1951642
hg1851642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1548n100
Supporting Variantsnssv3524840, nssv3524837, nssv3524838, nssv3524841, nssv3524839
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)nsv1038747
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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