A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337212



Internal ID20994765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170470427..170479560hg38UCSC Ensembl
chr2:171326937..171336070hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg389134
hg199134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18080327
Samples
Known GenesMYO3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337212
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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