A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6354732



Internal ID21012285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197484345..197487665hg38UCSC Ensembl
chr2:198349069..198352389hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383321
hg193321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208252
Samples
Known GenesHSPD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6354732
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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