A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179530



Internal ID20746570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:642551..894924hg38UCSC Ensembl
chr11:642551..894924hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38252374
hg19252374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6450007
Supporting Variants
Samples
Known GenesCD151, CEND1, CHID1, DEAF1, EFCAB4A, EPS8L2, NS3BP, PDDC1, PIDD, PNPLA2, POLR2L, RPLP2, SLC25A22, SNORA52, TALDO1, TMEM80, TSPAN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179530
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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