A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714774



Internal ID138440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77419472..77419559hg38UCSC Ensembl
chr17:75415554..75415641hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517142
Supporting Variants
Samples
Known GenesSEPT9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714774
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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