A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17542141



Internal ID21866496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127947967..127947967hg38UCSC Ensembl
chr4:128869122..128869122hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6066575
Supporting Variants
Samples
Known GenesMFSD8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17542141
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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