A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557762



Internal ID15998485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23769675..23800520hg38UCSC Ensembl
Innerchr12:23922609..23953454hg19UCSC Ensembl
Innerchr12:23813876..23844721hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3830846
hg1930846
hg1830846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789587
Samples
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557762
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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