A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420938



Internal ID200028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179447727..179447788hg38UCSC Ensembl
chr1:179416862..179416923hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893596
Samples
Known GenesAXDND1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420938
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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