A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16287176



Internal ID20496394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:496815..496815hg38UCSC Ensembl
chr19:496815..496815hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4759159
Supporting Variants
Samples
Known GenesMADCAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16287176
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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