A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17421777



Internal ID22479647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9521137..9522309hg38UCSC Ensembl
chr5:9521249..9522421hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381173
hg191173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5889525
Supporting Variants
Samples
Known GenesSEMA5A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17421777
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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