A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17430664



Internal ID22488534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21900387..21900437hg38UCSC Ensembl
chr7:21940005..21940055hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5922014
Supporting Variants
Samples
Known GenesDNAH11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17430664
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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