A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17027225



Internal ID85869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127619645..127621726hg38UCSC Ensembl
chr9:130381924..130384005hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg382082
hg192082
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141917
Supporting Variants
Samples
Known GenesSTXBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17027225
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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