A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882925



Internal ID22657902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71380964..71472884hg38UCSC Ensembl
chr1:71846647..71938567hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3891921
hg1991921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382371
Samples
Known GenesNEGR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882925
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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