A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346945



Internal ID21004498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112157909..112160001hg38UCSC Ensembl
chr2:112915486..112917578hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382093
hg192093
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206477
Samples
Known GenesFBLN7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346945
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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