A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917802



Internal ID12607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127966349..127968492hg38UCSC Ensembl
chr2:128723923..128726066hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382144
hg192144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449382
Supporting Variants
Samples
Known GenesSAP130
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917802
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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