A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048315



Internal ID18790846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125199208..125218592hg38UCSC Ensembl
Innerchr11:125069104..125088488hg19UCSC Ensembl
Innerchr11:124574314..124593698hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3819385
hg1919385
hg1819385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3510778
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048315
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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