A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6430520



Internal ID21088073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58569674..58623186hg38UCSC Ensembl
chr8:59482233..59535745hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3853513
hg1953513
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18221119
Samples
Known GenesNSMAF, SDCBP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6430520
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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