A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316138



Internal ID20849216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183256302..183257334hg38UCSC Ensembl
chr1:183225437..183226469hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381033
hg191033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18054692
Samples
Known GenesNMNAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316138
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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