A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6599698



Internal ID20972769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40794888..40795586hg38UCSC Ensembl
chr19:41300793..41301491hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38699
hg19699
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18246274
Samples
Known GenesMIA-RAB4B, RAB4B, RAB4B-EGLN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6599698
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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