A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18057014



Internal ID20624054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204424687..204443774hg38UCSC Ensembl
chr1:204393815..204412902hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3819088
hg1919088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321457
Supporting Variants
Samples
Known GenesPIK3C2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18057014
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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