A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337546



Internal ID20995099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190474753..190483597hg38UCSC Ensembl
chr2:191339479..191348323hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg388845
hg198845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083271
Samples
Known GenesMFSD6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337546
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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