A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334818



Internal ID20868007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246723801..246725200hg38UCSC Ensembl
chr1:246887103..246888502hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200709
Samples
Known GenesSCCPDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334818
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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