A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6424965



Internal ID21082518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143382646..143441000hg38UCSC Ensembl
chr8:144464816..144523170hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3858355
hg1958355
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18236519
Samples
Known GenesMAFA, RHPN1, ZC3H3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6424965
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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