A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970401



Internal ID47594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93736404..93736455hg38UCSC Ensembl
chr5:93072110..93072161hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558680
Supporting Variants
Samples
Known GenesFAM172A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970401
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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