A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6518312



Internal ID20891673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61151537..61154506hg38UCSC Ensembl
chr17:59228898..59231867hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382970
hg192970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181381
Samples
Known GenesBCAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6518312
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer