A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557396



Internal ID16344805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9452687..9563530hg38UCSC Ensembl
Innerchr12:9605283..9716126hg19UCSC Ensembl
Innerchr12:9496550..9607393hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38110844
hg19110844
hg18110844
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2349n54
Supporting Variantsnssv787532, nssv787531
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557396
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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