A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909332



Internal ID7005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6736244..6736295hg38UCSC Ensembl
chr2:6876375..6876426hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409856
Supporting Variants
Samples
Known GenesLINC00487
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909332
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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