A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6549251



Internal ID20922419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45291501..45293200hg38UCSC Ensembl
chr21:46711416..46713115hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204165
Samples
Known GenesLOC642852
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6549251
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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