A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18142986



Internal ID20710026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63747782..63751115hg38UCSC Ensembl
chr6:64457675..64461008hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg383334
hg193334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409259
Supporting Variants
Samples
Known GenesEYS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18142986
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0002


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