A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894568



Internal ID170543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198179319..198182571hg38UCSC Ensembl
chr1:198148449..198151701hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383253
hg193253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437348
Supporting Variants
Samples
Known GenesNEK7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894568
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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