A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874194



Internal ID22649145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204138793..204138842hg38UCSC Ensembl
chr1:204107921..204107970hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356264
Samples
Known GenesETNK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874194
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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