A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6599729



Internal ID20972800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39309620..39889637hg38UCSC Ensembl
chr21:40681546..41261562hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38580018
hg19580017
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18254755
Samples
Known GenesB3GALT5, BRWD1, BRWD1-AS1, BRWD1-IT2, C21orf88, HMGN1, IGSF5, LCA5L, MIR6508, PCP4, SH3BGR, WRB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6599729
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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