A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319247



Internal ID20852340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120147701..120153300hg38UCSC Ensembl
chr1:120690263..120695867hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg385600
hg195605
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200381
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319247
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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