A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6355286



Internal ID21012839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230979029..231031554hg38UCSC Ensembl
chr2:231843744..231896269hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3852526
hg1952526
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206196
Samples
Known GenesSPATA3, SPATA3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6355286
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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