A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14311657



Internal ID22189602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1164801..1175600hg38UCSC Ensembl
chr4:1158589..1169388hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3810800
hg1910800
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205666
Supporting Variants
SamplesHG00731
Known GenesSPON2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14311657
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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