A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899602



Internal ID512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247297945..247373904hg38UCSC Ensembl
chr1:247461247..247537206hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3875960
hg1975960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446575
Supporting Variants
Samples
Known GenesZNF496
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16899602
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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