A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909722



Internal ID7254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11665407..11665514hg38UCSC Ensembl
chr2:11805533..11805640hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443087
Supporting Variants
Samples
Known GenesNTSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909722
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004371


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