A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6350697



Internal ID21008250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231979353..231983114hg38UCSC Ensembl
chr2:232844063..232847824hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383762
hg193762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086617
Samples
Known GenesDIS3L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6350697
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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