A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204877



Internal ID20771917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135270301..135278000hg38UCSC Ensembl
chr2:136027871..136035570hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg387700
hg197700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6340198
Supporting Variants
Samples
Known GenesZRANB3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204877
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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