A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14388268



Internal ID22268662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28728988..28729554hg38UCSC Ensembl
chr17:27056006..27056572hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38567
hg19567
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228860
Supporting Variants
SamplesNA19238
Known GenesNEK8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14388268
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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