A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205371



Internal ID20772411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:185589231..185845174hg38UCSC Ensembl
chr2:186453958..186709901hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38255944
hg19255944
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339731
Supporting Variants
Samples
Known GenesFSIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205371
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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