A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560502



Internal ID16001225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911384..123911906hg38UCSC Ensembl
Innerchr12:124395931..124396453hg19UCSC Ensembl
Innerchr12:122961884..122962406hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38523
hg19523
hg18523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803659, nssv803661, nssv803660
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560502
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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