A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547309



Internal ID20920512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42512601..42514700hg38UCSC Ensembl
chr21:43932711..43934810hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204096
Samples
Known GenesSLC37A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547309
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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