A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340179



Internal ID20997732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108004353..108005065hg38UCSC Ensembl
chr2:108620809..108621521hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18075276
Samples
Known GenesSLC5A7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340179
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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