A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972363



Internal ID48933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95012454..95081921hg38UCSC Ensembl
chr5:94348158..94417625hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3869468
hg1969468
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465070
Supporting Variants
Samples
Known GenesMCTP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972363
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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