A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18048917



Internal ID20615957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54585001..54903800hg38UCSC Ensembl
chr19:55096468..55415160hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38318800
hg19318693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6534465
Supporting Variants
Samples
Known GenesFCAR, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LILRA1, LILRA2, LILRB1, LILRB4, LILRP2, LOC100287534, MIR8061
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18048917
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00036


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