A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695173



Internal ID118839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45204677..45204756hg38UCSC Ensembl
chr14:45673880..45673959hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500773
Supporting Variants
Samples
Known GenesMIS18BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695173
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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