A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425735



Internal ID204692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109037469..109038795hg38UCSC Ensembl
chr1:109580091..109581417hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381327
hg191327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908823
Samples
Known GenesWDR47
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425735
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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