A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18057615



Internal ID20624655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217607151..217607573hg38UCSC Ensembl
chr1:217780493..217780915hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323942
Supporting Variants
Samples
Known GenesGPATCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18057615
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00047


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