A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347167



Internal ID21004720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240811589..240815004hg38UCSC Ensembl
chr2:241751006..241754421hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383416
hg193416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18084562
Samples
Known GenesKIF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347167
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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