A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339979



Internal ID20997532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73207264..73214449hg38UCSC Ensembl
chr2:73434392..73441577hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg387186
hg197186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089708
Samples
Known GenesNOTO, SMYD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339979
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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