A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560550



Internal ID16001273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540246..124541327hg38UCSC Ensembl
Innerchr12:125024792..125025873hg19UCSC Ensembl
Innerchr12:123590745..123591826hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381082
hg191082
hg181082
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2937n54
Supporting Variantsnssv803908, nssv803910, nssv803911, nssv803909
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560550
Frequency
Sample Size17421
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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