A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343646



Internal ID21001199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69148207..69148375hg38UCSC Ensembl
chr2:69375339..69375507hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18088877
Samples
Known GenesANTXR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343646
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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