A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433013



Internal ID211741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95055853..95058288hg38UCSC Ensembl
chr1:95521409..95523844hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg382436
hg192436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906984
Samples
Known GenesALG14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433013
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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