A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422676



Internal ID201716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44342777..44342935hg38UCSC Ensembl
chr1:44808449..44808607hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902563
Samples
Known GenesERI3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422676
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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