A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18050954



Internal ID20617994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112494112..112495303hg38UCSC Ensembl
chr1:113036734..113037925hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381192
hg191192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319591
Supporting Variants
Samples
Known GenesWNT2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18050954
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.01557


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