A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18057412



Internal ID20624452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211296601..211297900hg38UCSC Ensembl
chr1:211469943..211471242hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331710
Supporting Variants
Samples
Known GenesRCOR3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18057412
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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