A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700124



Internal ID123790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40554874..40562874hg38UCSC Ensembl
chr15:40847073..40855073hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144274
Supporting Variants
Samples
Known GenesC15orf57
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700124
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000314


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