A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054218



Internal ID18796749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4710410..4773501hg38UCSC Ensembl
Innerchr12:4819576..4882667hg19UCSC Ensembl
Innerchr12:4689837..4752928hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3863092
hg1963092
hg1863092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3708079
Samples
Known GenesGALNT8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054218
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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