A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18062311



Internal ID20629351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63640000..63640872hg38UCSC Ensembl
chr1:64105671..64106543hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38873
hg19873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323560
Supporting Variants
Samples
Known GenesPGM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18062311
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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