A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960467



Internal ID22735440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50446976..50446976hg38UCSC Ensembl
chr1:50912648..50912648hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377832
Samples
Known GenesFAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960467
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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