A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955695



Internal ID22730894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209582718..209582718hg38UCSC Ensembl
chr2:210447442..210447442hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400990
Samples
Known GenesMAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955695
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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