A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871147



Internal ID22646085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217144359..217152867hg38UCSC Ensembl
chr1:217317701..217326209hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg388509
hg198509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv119n209
Supporting Variantsnssv17356598
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871147
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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