A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6418322



Internal ID21075875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8818167..9168131hg38UCSC Ensembl
chr8:8675677..9025641hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38349965
hg19349965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18223800
Samples
Known GenesERI1, MFHAS1, MIR4660, PPP1R3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6418322
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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