A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972348



Internal ID48924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94785782..94785833hg38UCSC Ensembl
chr5:94121487..94121538hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539046
Supporting Variants
Samples
Known GenesMCTP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972348
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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