A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427342



Internal ID22485212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76857911..76865398hg38UCSC Ensembl
chr5:76153736..76161223hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg387488
hg197488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5903779
Supporting Variants
Samples
Known GenesS100Z
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427342
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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