A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869963



Internal ID22644898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217476227..217496144hg38UCSC Ensembl
chr1:217649569..217669486hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3819918
hg1919918
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355832
Samples
Known GenesGPATCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869963
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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