A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952379



Internal ID16954566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:79054919..79342518hg38UCSC Ensembl
Outerchr17:77051001..77338600hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38287600
hg19287600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998812
SamplesBILGI_BIOE
Known GenesENGASE, RBFOX3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952379
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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