A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376269



Internal ID22601938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70849525..70854038hg38UCSC Ensembl
chr1:71315208..71319721hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384514
hg194514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5884208
Supporting Variants
Samples
Known GenesPTGER3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376269
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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