A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871184



Internal ID22646121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231475872..231475955hg38UCSC Ensembl
chr1:231611618..231611701hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368000
Samples
Known GenesSNRPD2P2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871184
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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