A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14392312



Internal ID22269119
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227744
Supporting Variants
SamplesNA19238
Known GenesEFCAB5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14392312
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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