A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894857



Internal ID170742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203056635..203056700hg38UCSC Ensembl
chr1:203025763..203025828hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440703
Supporting Variants
Samples
Known GenesPPFIA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894857
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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