A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901219



Internal ID1625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27845022..27846027hg38UCSC Ensembl
chr1:28171533..28172538hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381006
hg191006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428401
Supporting Variants
Samples
Known GenesPPP1R8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901219
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003903


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