A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6353129



Internal ID21010682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70301599..70306764hg38UCSC Ensembl
chr2:70528731..70533896hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385166
hg195166
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207002
Samples
Known GenesFAM136A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6353129
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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