A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530361



Internal ID306348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62430084..62472526hg38UCSC Ensembl
chr20:61005140..61047582hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3842443
hg1942443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733572
Samples
Known GenesGATA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530361
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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