A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424441



Internal ID203432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43247807..43248537hg38UCSC Ensembl
chr1:43713478..43714208hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38731
hg19731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901775
Samples
Known GenesWDR65
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424441
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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