A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6515310



Internal ID20888669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5544975..5822109hg38UCSC Ensembl
chr17:5448295..5725429hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38277135
hg19277135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18189223
Samples
Known GenesLOC339166, NLRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6515310
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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