A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5959471



Internal ID22720360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91264361..91264361hg38UCSC Ensembl
chr1:91729918..91729918hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406473
Samples
Known GenesHFM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5959471
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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