A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560955



Internal ID16001678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132149020..132150599hg38UCSC Ensembl
Innerchr12:132633565..132635144hg19UCSC Ensembl
Innerchr12:131199518..131201097hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381580
hg191580
hg181580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3017n54
Supporting Variantsnssv805487, nssv805488
Samples
Known GenesNOC4L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560955
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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