A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345022



Internal ID21002575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206375924..207087017hg38UCSC Ensembl
chr2:207240648..207951741hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38711094
hg19711094
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208099
Samples
Known GenesADAM23, CPO, DYTN, FASTKD2, KLF7, LOC200726, MDH1B, MIR3130-1, MIR3130-2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345022
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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