A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18061530



Internal ID20628570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54053096..54054151hg38UCSC Ensembl
chr1:54518769..54519824hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317043
Supporting Variants
Samples
Known GenesMIR4781, TCEANC2, TMEM59
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18061530
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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