A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6546988



Internal ID20920198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44317535..44317652hg38UCSC Ensembl
chr2:44544674..44544791hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18257991
Samples
Known GenesPREPL, SLC3A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6546988
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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