A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702174



Internal ID125840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78090520..78093027hg38UCSC Ensembl
chr15:78382862..78385369hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg382508
hg192508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520143
Supporting Variants
Samples
Known GenesSH2D7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702174
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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