A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17008312



Internal ID73174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11716365..11719484hg38UCSC Ensembl
chr8:11573874..11576993hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383120
hg193120
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555734
Supporting Variants
Samples
Known GenesGATA4
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17008312
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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