A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540777



Internal ID315486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95735201..95735252hg38UCSC Ensembl
chr1:96200757..96200808hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906725
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540777
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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