A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18081166



Internal ID20648206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188316943..188319630hg38UCSC Ensembl
chr2:189181670..189184357hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg382688
hg192688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351813
Supporting Variants
Samples
Known GenesGULP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18081166
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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