A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5455981



Internal ID234050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72925060..72926797hg38UCSC Ensembl
chr6:73634783..73636520hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381738
hg191738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984576
Samples
Known GenesKCNQ5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5455981
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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