A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971780



Internal ID48539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103263767..103307469hg38UCSC Ensembl
chr5:102599468..102643170hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3843703
hg1943703
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471137
Supporting Variants
Samples
Known GenesC5orf30
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971780
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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