A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958081



Internal ID22716356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216354933..216354933hg38UCSC Ensembl
chr2:217219656..217219656hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405135
Samples
Known GenesMARCH4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958081
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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