A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907100



Internal ID5515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100873400..100873482hg38UCSC Ensembl
chr1:101338956..101339038hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418533
Supporting Variants
Samples
Known GenesEXTL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907100
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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