A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18256639



Internal ID20823679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120165725..120166671hg38UCSC Ensembl
chr2:120923301..120924247hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38947
hg19947
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6546153
Supporting Variants
Samples
Known GenesEPB41L5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18256639
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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