A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950070



Internal ID22668985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219184820..219184820hg38UCSC Ensembl
chr2:220049542..220049542hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399389
Samples
Known GenesFAM134A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950070
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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