A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3926072



Internal ID21346143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128005705..128005705hg38UCSC Ensembl
chr6:128326850..128326850hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg384135
hg194135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15202876
SamplesHG002
Known GenesPTPRK
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3926072
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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