A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv805505



Internal ID15752775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132181784..132203570hg38UCSC Ensembl
Innerchr12:132666329..132688115hg19UCSC Ensembl
Innerchr12:131232282..131254068hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3821787
hg1921787
hg1821787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560964
Supporting Variants
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv805505
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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