A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071412



Internal ID19326580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79499217..79532918hg38UCSC Ensembl
chr17:77495299..77529000hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3833702
hg1933702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764225
SamplesKWP1
Known GenesRBFOX3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071412
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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