A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995401



Internal ID64366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:52620734..52623789hg38UCSC Ensembl
chr7:52688430..52691485hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg383056
hg193056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491475
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995401
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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