A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438558



Internal ID217119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235440204..235446343hg38UCSC Ensembl
chr1:235603519..235609658hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg386140
hg196140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896587
Samples
Known GenesTBCE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438558
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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