A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281811



Internal ID22278197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76310157..76310330hg38UCSC Ensembl
chr17:74306238..74306411hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527300
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281811
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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