A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331962



Internal ID20865130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120197101..120201300hg38UCSC Ensembl
chr1:145071651..145075846hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384200
hg194196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200386
Samples
Known GenesLOC100288142, NBPF9, PDE4DIP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331962
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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