A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904522



Internal ID22679699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148261362..148308515hg38UCSC Ensembl
chr5:147640925..147688078hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3847154
hg1947154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410050
Samples
Known GenesLOC102546294, SPINK13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904522
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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