A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5883311



Internal ID22658290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109282575..109282678hg38UCSC Ensembl
chr1:109825197..109825300hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366062
Samples
Known GenesPSRC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5883311
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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