A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560315



Internal ID16001038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116277154..116278002hg38UCSC Ensembl
Innerchr12:116714959..116715807hg19UCSC Ensembl
Innerchr12:115199342..115200190hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38849
hg19849
hg18849
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2892n54
Supporting Variantsnssv802826, nssv802821, nssv802831, nssv802834, nssv802825, nssv802829, nssv802827, nssv802830, nssv802824, nssv802833, nssv802832, nssv802822, nssv802828, nssv802823
Samples
Known GenesMED13L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560315
Frequency
Sample Size17421
Observed Gain13
Observed Loss1
Observed Complex0
Frequencyn/a


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