A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890607



Internal ID167916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9660986..9673102hg38UCSC Ensembl
chr1:9721044..9733160hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3812117
hg1912117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423460
Supporting Variants
Samples
Known GenesPIK3CD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890607
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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