A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420394



Internal ID199499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69766214..69766271hg38UCSC Ensembl
chr1:70231897..70231954hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904608
Samples
Known GenesLRRC7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420394
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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