A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908913



Internal ID6733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112539884..112539915hg38UCSC Ensembl
chr1:113082506..113082537hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381213
hg191213
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554230
Supporting Variants
Samples
Known GenesST7L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908913
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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