A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071260



Internal ID18977059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7567592..7567653hg38UCSC Ensembl
chr16:7617594..7617655hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769876
SamplesKWP1
Known GenesRBFOX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071260
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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