A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901068



Internal ID1519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21370480..21500370hg38UCSC Ensembl
chr1:21696973..21826863hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38129891
hg19129891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138335
Supporting Variants
Samples
Known GenesNBPF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901068
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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