A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908839



Internal ID6684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109108012..109108012hg38UCSC Ensembl
chr1:109650634..109650634hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544767
Supporting Variants
Samples
Known GenesC1orf194
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908839
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.024463


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