A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903179



Internal ID22678344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170619345..170619430hg38UCSC Ensembl
chr5:170046349..170046434hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17419108
Samples
Known GenesKCNIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903179
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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