A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348097



Internal ID21005650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172040801..172045300hg38UCSC Ensembl
chr2:172905712..172910028hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384500
hg194317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18080406
Samples
Known GenesMETAP1D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348097
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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