A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17030102



Internal ID87786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133548769..133560499hg38UCSC Ensembl
chr9:136413891..136425621hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3811731
hg1911731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5479293
Supporting Variants
Samples
Known GenesADAMTSL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17030102
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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