A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148234



Internal ID19200238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:85158882..85158936hg38UCSC Ensembl
Outerchr6:85868600..85868654hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001745
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148234
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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