A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6503270



Internal ID20876523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41802835..41804186hg38UCSC Ensembl
chr17:39959087..39960438hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381352
hg191352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18035513
Samples
Known GenesLEPREL4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6503270
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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