A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316353



Internal ID20849432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149072801..149080300hg38UCSC Ensembl
chr1:148337401..148344887hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg387500
hg197487
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv377n223
Supporting Variantsnssv18200903
Samples
Known GenesLOC101929780, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316353
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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