A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890512



Internal ID167846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149063900..149096587hg38UCSC Ensembl
chr1:148328521..148360063hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3832688
hg1931543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426402
Supporting Variants
Samples
Known GenesLOC101929780, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890512
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001094


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