A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146200



Internal ID345405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19026030..19237111hg38UCSC Ensembl
chr17:18929343..19140424hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38211082
hg19211082
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711989
Samples
Known GenesGRAP, GRAPL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146200
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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