A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901744



Internal ID1955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42827200..42828907hg38UCSC Ensembl
chr1:43292871..43294578hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381708
hg191708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433351
Supporting Variants
Samples
Known GenesERMAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901744
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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