A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17992679



Internal ID20559719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68823577..68823973hg38UCSC Ensembl
chr11:68591045..68591441hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465224
Supporting Variants
Samples
Known GenesCPT1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17992679
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0007


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