A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150000



Internal ID19200634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:135017372..135017434hg38UCSC Ensembl
Outerchr5:134353062..134353124hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998786
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150000
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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