A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907837



Internal ID6004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108217835..108423835hg38UCSC Ensembl
chr1:108760457..108966457hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38206001
hg19206001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138804
Supporting Variants
Samples
Known GenesNBPF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907837
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000317


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