A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17403853



Internal ID22461723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148881719..148881849hg38UCSC Ensembl
chr2:149639288..149639418hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5899442
Supporting Variants
Samples
Known GenesKIF5C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17403853
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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