A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035476



Internal ID18778007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:464704..496721hg38UCSC Ensembl
Innerchr12:573870..605887hg19UCSC Ensembl
Innerchr12:444131..476148hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3832018
hg1932018
hg1832018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1332n100
Supporting Variantsnssv3503783
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)nsv1035476
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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