A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907258



Internal ID5626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70963990..71006107hg38UCSC Ensembl
chr1:71429673..71471790hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3842118
hg1942118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423144
Supporting Variants
Samples
Known GenesPTGER3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907258
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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