A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423224



Internal ID202246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112440937..112444935hg38UCSC Ensembl
chr1:112983559..112987557hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383999
hg193999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908903
Samples
Known GenesCTTNBP2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423224
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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