A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695329



Internal ID118995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21433603..21433654hg38UCSC Ensembl
chr14:21901762..21901813hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432865
Supporting Variants
Samples
Known GenesCHD8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695329
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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