A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18075931



Internal ID20642971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120803579..120805130hg38UCSC Ensembl
chr2:121561155..121562706hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381552
hg191552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338805
Supporting Variants
Samples
Known GenesGLI2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18075931
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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