A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329446



Internal ID20862598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241867368..242127310hg38UCSC Ensembl
chr1:242030670..242290612hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38259943
hg19259943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200620
Samples
Known GenesEXO1, MAP1LC3C, PLD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6329446
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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