A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428084



Internal ID206965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71123829..71220140hg38UCSC Ensembl
chr1:71589512..71685823hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3896312
hg1996312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904239
Samples
Known GenesZRANB2-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428084
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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