A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900593



Internal ID1186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2207274..2207331hg38UCSC Ensembl
chr1:2138713..2138770hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419500
Supporting Variants
Samples
Known GenesC1orf86
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900593
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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