A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557424



Internal ID16344833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9480876..9573873hg38UCSC Ensembl
Innerchr12:9633472..9726469hg19UCSC Ensembl
Innerchr12:9524739..9617736hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3892998
hg1992998
hg1892998
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2349n54
Supporting Variantsnssv787901, nssv787890, nssv787897, nssv787891, nssv787903, nssv787892, nssv787905, nssv787904, nssv787896, nssv787909, nssv787898, nssv787899, nssv787895, nssv787908, nssv787888, nssv787902, nssv787906, nssv787907, nssv787887, nssv787889, nssv787894, nssv787900, nssv787893
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557424
Frequency
Sample Size17421
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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