A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205375



Internal ID20772415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:185801523..185814191hg38UCSC Ensembl
chr2:186666250..186678918hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3812669
hg1912669
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6354602
Supporting Variants
Samples
Known GenesFSIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205375
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00034


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