A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559046



Internal ID15999769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57768302..58084815hg38UCSC Ensembl
Innerchr12:58162085..58478598hg19UCSC Ensembl
Innerchr12:56448352..56764865hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38316514
hg19316514
hg18316514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796457
Samples
Known GenesAVIL, CTDSP2, LOC100506844, METTL1, METTL21B, MIR26A2, TSFM, XRCC6BP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559046
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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