A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060753



Internal ID20627793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40392039..40392385hg38UCSC Ensembl
chr1:40857711..40858057hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330288
Supporting Variants
Samples
Known GenesSMAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060753
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00039


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