A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319610



Internal ID20852705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143538001..143797100hg38UCSC Ensembl
chr1:149032663..149291735hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38259100
hg19259073
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv328n223
Supporting Variantsnssv18200739
Samples
Known GenesLOC101929780, LOC388692, NBPF23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319610
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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