A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789592



Internal ID15736862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23786066..23793212hg38UCSC Ensembl
Innerchr12:23939000..23946146hg19UCSC Ensembl
Innerchr12:23830267..23837413hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg387147
hg197147
hg187147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557767
Supporting Variants
Samples
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789592
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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