A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150986



Internal ID18850130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20429597..20429650hg38UCSC Ensembl
Outerchr14:20897756..20897809hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001922
SamplesKWB1
Known GenesKLHL33
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150986
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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