A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560965



Internal ID16001688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132181784..132203592hg38UCSC Ensembl
Innerchr12:132666329..132688137hg19UCSC Ensembl
Innerchr12:131232282..131254090hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3821809
hg1921809
hg1821809
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3019n54
Supporting Variantsnssv805506
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560965
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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