A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14386318



Internal ID22268471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60498886..60498937hg38UCSC Ensembl
chr17:58576247..58576298hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211579
Supporting Variants
SamplesNA19238
Known GenesAPPBP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14386318
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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