A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560430



Internal ID16001153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119989241..119990058hg38UCSC Ensembl
Innerchr12:120427045..120427862hg19UCSC Ensembl
Innerchr12:118911428..118912245hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38818
hg19818
hg18818
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2913n54
Supporting Variantsnssv803390, nssv803389
Samples
Known GenesCCDC64
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560430
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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