A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247791



Internal ID21301702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125205392..125221672hg38UCSC Ensembl
Outerchr11:125204606..125225221hg38UCSC Ensembl
Innerchr11:125075288..125091568hg19UCSC Ensembl
Outerchr11:125074502..125095117hg19UCSC Ensembl
Innerchr11:124580498..124596778hg18UCSC Ensembl
Outerchr11:124579712..124600327hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3820616
hg1920616
hg1820616
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170001
Supporting Variants
SamplesMLY_1
Known GenesPKNOX2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247791
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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