A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423087



Internal ID202113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7861532..7897172hg38UCSC Ensembl
chr1:7921592..7957232hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3835641
hg1935641
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906807
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423087
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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