A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18083854



Internal ID20650894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190968873..190969496hg38UCSC Ensembl
chr2:191833599..191834222hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341300
Supporting Variants
Samples
Known GenesSTAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18083854
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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