A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17030000



Internal ID87721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132653222..132654375hg38UCSC Ensembl
chr9:135528609..135529762hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg381154
hg191154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476191
Supporting Variants
Samples
Known GenesDDX31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17030000
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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