A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18051289



Internal ID20618329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119907692..119911847hg38UCSC Ensembl
chr1:120450315..120454470hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg384156
hg194156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332562
Supporting Variants
Samples
Known GenesNOTCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18051289
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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