A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480080



Internal ID22537983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50292902..50300764hg38UCSC Ensembl
chr1:50758574..50766436hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg387863
hg197863
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830052
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480080
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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