A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344145



Internal ID21001698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157854491..157863423hg38UCSC Ensembl
chr2:158711003..158719935hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg388933
hg198933
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18079821
Samples
Known GenesACVR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344145
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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