A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175448



Internal ID15507838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24251063..24282487hg38UCSC Ensembl
Innerchr12:24403997..24435421hg19UCSC Ensembl
Innerchr12:24295264..24326688hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3831425
hg1931425
hg1831425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557774
Supporting Variants
Samples1780862194_A
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175448
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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