A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14315069



Internal ID22140371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127952869..127953570hg38UCSC Ensembl
chr4:128874024..128874725hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190789
Supporting Variants
SamplesHG00513
Known GenesMFSD8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14315069
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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