A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14405534



Internal ID22293545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9226411..9226475hg38UCSC Ensembl
chr17:9129728..9129792hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3286606
Supporting Variants
SamplesNA19240
Known GenesNTN1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14405534
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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