A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6009173



Internal ID21918516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56423448..56515281hg38UCSC Ensembl
chr8:57336007..57427840hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3891834
hg1991834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17595615
Samples
Known GenesPENK
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6009173
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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