A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054692



Internal ID18797223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:464256..506220hg38UCSC Ensembl
Innerchr12:573422..615386hg19UCSC Ensembl
Innerchr12:443683..485647hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3841965
hg1941965
hg1841965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1332n100
Supporting Variantsnssv3521201
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)nsv1054692
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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