A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894173



Internal ID170272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196661903..196663983hg38UCSC Ensembl
chr1:196631033..196633113hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382081
hg192081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437479
Supporting Variants
Samples
Known GenesCFH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894173
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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