A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18051294



Internal ID20618334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120140501..120147900hg38UCSC Ensembl
chr1:120683065..120690462hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg387400
hg197398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321941
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18051294
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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