A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324330



Internal ID22192457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150516695..150518800hg38UCSC Ensembl
chr5:149896257..149898362hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg382106
hg192106
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197618
Supporting Variants
SamplesHG00731
Known GenesNDST1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324330
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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