A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420055



Internal ID199171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145072000..145108587hg38UCSC Ensembl
chr1:143900557..143937143hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3836588
hg1936587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890003
Samples
Known GenesFAM72D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420055
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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