A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421297



Internal ID200377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2370969..2388840hg38UCSC Ensembl
chr1:2302408..2320279hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3817872
hg1917872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900633
Samples
Known GenesMORN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421297
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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