A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422038



Internal ID201093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56776952..56777233hg38UCSC Ensembl
chr1:57242625..57242906hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903050
Samples
Known GenesC1orf168
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422038
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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