A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6328586



Internal ID20861734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244934576..245534375hg38UCSC Ensembl
chr1:245097878..245697677hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38599800
hg19599800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200672
Samples
Known GenesEFCAB2, KIF26B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6328586
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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