A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398774



Internal ID178169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210081815..210081866hg38UCSC Ensembl
chr2:210946539..210946590hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924822
Samples
Known GenesKANSL1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398774
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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