A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404951



Internal ID22320510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43975838..43976012hg38UCSC Ensembl
chr17:42053206..42053380hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223013
Supporting Variants
SamplesNA19240
Known GenesPYY
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404951
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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