A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907101



Internal ID5516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100909700..100909751hg38UCSC Ensembl
chr1:101375256..101375307hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396241
Supporting Variants
Samples
Known GenesSLC30A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907101
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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