A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv328n223



Internal ID22803296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143521201..143799700hg38UCSC Ensembl
chr1:149018779..149294325hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38278500
hg19275547
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6325080, nsv6319610, nsv6317769, nsv6330919, nsv6318003, nsv6327865, nsv6327067, nsv6325263, nsv6322200, nsv6329186, nsv6324964, nsv6324483, nsv6330616, nsv6326523, nsv6327906
Samples
Known GenesLOC101929780, LOC388692, NBPF23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv328n223
Frequency
Sample Size19652
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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