A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227744



Internal ID22370142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30036257..30036317hg38UCSC Ensembl
chr17:28363275..28363335hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3526n152
Supporting Variantsnssv14392312, nssv14379218
SamplesNA19238, NA19240
Known GenesEFCAB5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227744
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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