A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890186



Internal ID167610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148012226..148158542hg38UCSC Ensembl
chr1:147484458..147630821hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38146317
hg19146364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433167
Supporting Variants
Samples
Known GenesNBPF11, NBPF24, NBPF8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890186
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004534


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