A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453710



Internal ID22217538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67565624..67565711hg38UCSC Ensembl
chr17:65561740..65561827hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226763
Supporting Variants
SamplesHG00733
Known GenesPITPNC1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14453710
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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