A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17398173



Internal ID22456043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11665407..11665513hg38UCSC Ensembl
chr2:11805533..11805639hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5879514
Supporting Variants
Samples
Known GenesNTSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17398173
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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