A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6430002



Internal ID21087555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51712201..51721700hg38UCSC Ensembl
chr8:52624761..52634260hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg389500
hg199500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18222140
Samples
Known GenesPXDNL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6430002
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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