A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560505



Internal ID16001228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911384..123912269hg38UCSC Ensembl
Innerchr12:124395931..124396816hg19UCSC Ensembl
Innerchr12:122961884..122962769hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38886
hg19886
hg18886
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2928n54
Supporting Variantsnssv803669, nssv803671, nssv803668, nssv803666, nssv803670, nssv803667, nssv803672, nssv803665
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560505
Frequency
Sample Size17421
Observed Gain3
Observed Loss5
Observed Complex0
Frequencyn/a


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