A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326625



Internal ID20859762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226947926..226957499hg38UCSC Ensembl
chr1:227135627..227145200hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg389574
hg199574
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202714
Samples
Known GenesADCK3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326625
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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