A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347871



Internal ID21005424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108010428..108010855hg38UCSC Ensembl
chr2:108626884..108627311hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18075277
Samples
Known GenesSLC5A7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347871
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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