A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560314



Internal ID16001037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116277154..116277946hg38UCSC Ensembl
Innerchr12:116714959..116715751hg19UCSC Ensembl
Innerchr12:115199342..115200134hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38793
hg19793
hg18793
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2892n54
Supporting Variantsnssv802815, nssv802819, nssv802813, nssv802812, nssv802818, nssv802814, nssv802820, nssv802816, nssv802817
Samples
Known GenesMED13L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560314
Frequency
Sample Size17421
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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