A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344628



Internal ID21002181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101084742..101087948hg38UCSC Ensembl
chr2:101701204..101704410hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383207
hg193207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18075479
Samples
Known GenesTBC1D8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344628
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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