A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6434157



Internal ID21091710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42492821..42494949hg38UCSC Ensembl
chr8:42350339..42352467hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382129
hg192129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18166964
Samples
Known GenesSLC20A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6434157
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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