A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557336



Internal ID16344745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8222190..8223326hg38UCSC Ensembl
Innerchr12:8374786..8375922hg19UCSC Ensembl
Innerchr12:8266053..8267189hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381137
hg191137
hg181137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787429
Samples
Known GenesFAM90A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557336
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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