A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18061220



Internal ID20628260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37970028..37971436hg38UCSC Ensembl
chr1:38435700..38437108hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381409
hg191409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319747
Supporting Variants
Samples
Known GenesSF3A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18061220
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00019


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