A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424143



Internal ID203143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48281518..48315895hg38UCSC Ensembl
chr1:48747190..48781567hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3834378
hg1934378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902207
Samples
Known GenesSPATA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424143
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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