A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6542560



Internal ID20915818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44939201..44940600hg38UCSC Ensembl
chr21:46359116..46360515hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204155
Samples
Known GenesC21orf67, FAM207A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6542560
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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