A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430249



Internal ID209064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71320849..71609536hg38UCSC Ensembl
chr1:71786532..72075219hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38288688
hg19288688
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904254
Samples
Known GenesNEGR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430249
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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