A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406749



Internal ID22295468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39930278..39930709hg38UCSC Ensembl
chr17:38086531..38086962hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224081
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14406749
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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