A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076790



Internal ID18975330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:70424316..70424382hg38UCSC Ensembl
Outerchr14:70891033..70891099hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770531
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076790
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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