A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406728



Internal ID22319257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32276874..32276931hg38UCSC Ensembl
chr17:30603893..30603950hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3287202
Supporting Variants
SamplesNA19240
Known GenesRHBDL3
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)nssv14406728
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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