A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902207



Internal ID2272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48281518..48315895hg38UCSC Ensembl
chr1:48747190..48781567hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3834378
hg1934378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424143
Supporting Variants
Samples
Known GenesSPATA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902207
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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