A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918839



Internal ID13330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135447095..135475811hg38UCSC Ensembl
chr2:136204665..136233381hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3828717
hg1928717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446226
Supporting Variants
Samples
Known GenesZRANB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918839
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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