A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14405009



Internal ID22288432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63747985..63748120hg38UCSC Ensembl
chr17:61825345..61825480hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3176628
Supporting Variants
SamplesNA19240
Known GenesCCDC47
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14405009
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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