A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514307



Internal ID290805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38917116..38917195hg38UCSC Ensembl
chr17:37073369..37073448hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712994
Samples
Known GenesLASP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514307
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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