A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954790



Internal ID22730018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133102913..133102913hg38UCSC Ensembl
chr5:132438605..132438605hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17413659
Samples
Known GenesHSPA4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954790
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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