A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336028



Internal ID20993581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134717001..134719500hg38UCSC Ensembl
chr2:135474571..135477070hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18077619
Samples
Known GenesTMEM163
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336028
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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