A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420704



Internal ID199799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71125835..71177835hg38UCSC Ensembl
chr1:71591518..71643518hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3852001
hg1952001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904241
Samples
Known GenesZRANB2-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420704
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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