A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559388



Internal ID16346797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73881410..73956547hg38UCSC Ensembl
Innerchr12:74275190..74350327hg19UCSC Ensembl
Innerchr12:72561457..72636594hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3875138
hg1975138
hg1875138
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798827
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559388
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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