A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554093



Internal ID20927202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46215208..46216024hg38UCSC Ensembl
chr1:46680880..46681696hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38817
hg19817
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181n223
Supporting Variantsnssv18251129
Samples
Known GenesLURAP1, POMGNT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554093
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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