A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6597243



Internal ID20970314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:22253885..27921241hg38UCSC Ensembl
chr21:23626205..29293560hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg385667357
hg195667356
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18252864
Samples
Known GenesADAMTS1, ADAMTS5, APP, ATP5J, CYYR1, D21S2088E, GABPA, JAM2, LINC00113, LINC00158, LINC00515, LOC339622, MIR155, MIR155HG, MIR4759, MIR5009, MRPL39
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6597243
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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