A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16957986



Internal ID39304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144069000..144147400hg38UCSC Ensembl
chr4:144990153..145068553hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3878401
hg1978401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470026
Supporting Variants
Samples
Known GenesGYPA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16957986
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000947


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