A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425987



Internal ID204934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66626803..66626862hg38UCSC Ensembl
chr1:67092486..67092545hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903944
Samples
Known GenesSGIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425987
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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