A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529839



Internal ID305845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63530194..63530317hg38UCSC Ensembl
chr17:61607555..61607678hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714001
Samples
Known GenesKCNH6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529839
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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