A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695943



Internal ID119609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59519384..59519386hg38UCSC Ensembl
chr14:59986102..59986104hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg383
hg193
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554572
Supporting Variants
Samples
Known GenesCCDC175
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695943
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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