A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17036019



Internal ID91755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73240854..73240905hg38UCSC Ensembl
chr10:75000612..75000663hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409699
Supporting Variants
Samples
Known GenesFAM149B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17036019
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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