A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18050175



Internal ID20617215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10315701..10318200hg38UCSC Ensembl
chr1:10375759..10378258hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323816
Supporting Variants
Samples
Known GenesKIF1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18050175
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00107


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