A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714755



Internal ID138421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76916060..76916086hg38UCSC Ensembl
chr17:74912142..74912168hg19UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550817
Supporting Variants
Samples
Known GenesMGAT5B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714755
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.012168


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