A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481171



Internal ID22539075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70979810..70980909hg38UCSC Ensembl
chr1:71445493..71446592hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830131
Supporting Variants
Samples
Known GenesPTGER3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481171
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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