A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6591243



Internal ID20964314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2219709..2220138hg38UCSC Ensembl
chr17:2123003..2123432hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18241566
Samples
Known GenesSMG6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6591243
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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