A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16957991



Internal ID39309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144125190..144131381hg38UCSC Ensembl
chr4:145046343..145052534hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg386192
hg196192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140929
Supporting Variants
Samples
Known GenesGYPA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16957991
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000157


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