A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422698



Internal ID201738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30254631..30254682hg38UCSC Ensembl
chr17:28581649..28581700hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712468
Samples
Known GenesBLMH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422698
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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