A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348120



Internal ID21005673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75531765..75542561hg38UCSC Ensembl
chr2:75758891..75769687hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3810797
hg1910797
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207651
Samples
Known GenesEVA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348120
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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