A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544195



Internal ID22413238
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3528n152
Supporting Variantsnssv14375659, nssv14385637, nssv14386977, nssv14388049, nssv14385738, nssv14389950, nssv14378370, nssv14382313
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
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)nsv3544195
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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