A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038998



Internal ID18781529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:466467..508815hg38UCSC Ensembl
Innerchr12:575633..617981hg19UCSC Ensembl
Innerchr12:445894..488242hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3842349
hg1942349
hg1842349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1332n100
Supporting Variantsnssv3506955
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038998
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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