A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17410050



Internal ID22467920
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 StatusS
Merged Variantsnsv5904522
Supporting Variants
Samples
Known GenesLOC102546294, SPINK13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17410050
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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