A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557276



Internal ID16344685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7808980..7970710hg38UCSC Ensembl
Innerchr12:7961576..8123306hg19UCSC Ensembl
Innerchr12:7852843..8014573hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38161731
hg19161731
hg18161731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2329n54
Supporting Variantsnssv787271, nssv787272, nssv787273
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557276
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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