A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706694



Internal ID130360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1530694..1530745hg38UCSC Ensembl
chr16:1580695..1580746hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145732
Supporting Variants
Samples
Known GenesIFT140, TMEM204
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706694
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010595


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