A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6435078



Internal ID21092631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132341201..132344000hg38UCSC Ensembl
chr8:133353448..133356247hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18165691
Samples
Known GenesKCNQ3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6435078
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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