A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050375



Internal ID19139594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59157119..59261585hg38UCSC Ensembl
Innerchr12:59550900..59655366hg19UCSC Ensembl
Innerchr12:57837167..57941633hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38104467
hg19104467
hg18104467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523628, nssv3523627
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050375
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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