A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206102



Internal ID20773142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225568101..225646600hg38UCSC Ensembl
chr2:226432817..226511316hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3878500
hg1978500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6347933
Supporting Variants
Samples
Known GenesNYAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206102
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00061


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