A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346719



Internal ID21004272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64519301..64527700hg38UCSC Ensembl
chr2:64746435..64754834hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg388400
hg198400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206947
Samples
Known GenesAFTPH, MIR4434
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346719
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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