A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18049684



Internal ID20616724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6758151..6759298hg38UCSC Ensembl
chr19:6758162..6759309hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381148
hg191148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6524648
Supporting Variants
Samples
Known GenesSH2D3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18049684
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00051


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