A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416264



Internal ID195496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8122346..8130815hg38UCSC Ensembl
chr1:8182406..8190875hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg388470
hg198470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6n206
Supporting Variantsnssv16907805
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416264
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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