A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17423943



Internal ID22481813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79478454..79478716hg38UCSC Ensembl
chr5:78774277..78774539hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896210
Supporting Variants
Samples
Known GenesHOMER1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17423943
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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