A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447934



Internal ID226223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227351547..227357750hg38UCSC Ensembl
chr1:227539248..227545451hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg386204
hg196204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898232
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447934
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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