A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318823



Internal ID20851915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234596401..234608800hg38UCSC Ensembl
chr1:234732147..234744546hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3812400
hg1912400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202390
Samples
Known GenesIRF2BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318823
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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