A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230175



Internal ID22371783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129733054..129733449hg38UCSC Ensembl
chr7:129372894..129373289hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14338278, nssv14338277
SamplesNA19238, HG00731
Known GenesNRF1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230175
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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