A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560556



Internal ID16001279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540246..124545229hg38UCSC Ensembl
Innerchr12:125024792..125029775hg19UCSC Ensembl
Innerchr12:123590745..123595728hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384984
hg194984
hg184984
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2940n54
Supporting Variantsnssv803962, nssv803966, nssv803963, nssv803968, nssv803964, nssv803961, nssv803965, nssv803967
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560556
Frequency
Sample Size17421
Observed Gain6
Observed Loss2
Observed Complex0
Frequencyn/a


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