A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18061423



Internal ID20628463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44952005..44952263hg38UCSC Ensembl
chr1:45417677..45417935hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333516
Supporting Variants
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18061423
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.04326


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