A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17509222



Internal ID22567172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43081704..43105846hg38UCSC Ensembl
chr8:42936847..42960989hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3824143
hg1924143
Variant TypeOTHER copy number variation
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5850637
Supporting Variants
Samples
Known GenesFNTA, POMK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17509222
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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