A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6424176



Internal ID21081729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95133301..95135100hg38UCSC Ensembl
chr8:96145529..96147328hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18228275
Samples
Known GenesPLEKHF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6424176
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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