A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345243



Internal ID21002796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215087130..215151787hg38UCSC Ensembl
chr2:215951853..216016510hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3864658
hg1964658
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208175
Samples
Known GenesABCA12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345243
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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