A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6592463



Internal ID20965534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48200013..48200673hg38UCSC Ensembl
chr17:46277375..46278035hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38661
hg19661
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18242508
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6592463
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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