A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17028604



Internal ID86770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124294300..124295766hg38UCSC Ensembl
chr9:127056579..127058045hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381467
hg191467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488954
Supporting Variants
Samples
Known GenesNEK6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17028604
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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