A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327721



Internal ID20860863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241850085..242014964hg38UCSC Ensembl
chr1:242013387..242178266hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38164880
hg19164880
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200619
Samples
Known GenesEXO1, MAP1LC3C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327721
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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