A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18083531



Internal ID20650571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189455064..189458264hg38UCSC Ensembl
chr2:190319790..190322990hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg383201
hg193201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348432
Supporting Variants
Samples
Known GenesWDR75
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18083531
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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