A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432955



Internal ID211684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16131126..16131180hg38UCSC Ensembl
chr1:16457621..16457675hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896500
Samples
Known GenesEPHA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432955
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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