A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498302



Internal ID20871512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17583051..17585342hg38UCSC Ensembl
chr17:17486365..17488656hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382292
hg192292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191422
Samples
Known GenesPEMT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498302
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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