A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6546153



Internal ID20919372
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 StatusM
Merged Variantsdgv4090n223
Supporting Variantsnssv18256639
Samples
Known GenesEPB41L5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6546153
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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