A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559254



Internal ID332292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5990991..5991024hg38UCSC Ensembl
chr1:6051051..6051084hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905783
Samples
Known GenesNPHP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559254
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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