A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14386977



Internal ID22182485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31332573..31332923hg38UCSC Ensembl
chr17:29659591..29659941hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV line1 deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3544195
Supporting Variants
SamplesHG00514
Known GenesNF1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a L1HS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14386977
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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