A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695212



Internal ID118878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50539841..50540033hg38UCSC Ensembl
chr14:51006559..51006751hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494820
Supporting Variants
Samples
Known GenesATL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695212
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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