A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344085



Internal ID21001638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10319698..10320615hg38UCSC Ensembl
chr2:10459824..10460741hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38918
hg19918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18075152
Samples
Known GenesHPCAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344085
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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