A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6538600



Internal ID20911913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120095810..120096577hg38UCSC Ensembl
chr2:120853386..120854153hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38768
hg19768
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18256638
Samples
Known GenesEPB41L5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6538600
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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