A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6598071



Internal ID20971142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45231191..45516030hg38UCSC Ensembl
chr21:46651106..46935944hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38284840
hg19284839
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18255095
Samples
Known GenesCOL18A1, COL18A1-AS1, COL18A1-AS2, LINC00316, LOC642852, MIR6815, POFUT2, SLC19A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6598071
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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