A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557767



Internal ID15998490
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 StatusM
Merged Variants
Supporting Variantsnssv789593, nssv789592
Samples
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557767
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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