A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129298



Internal ID19265432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:34242083..34242174hg38UCSC Ensembl
Outerchr8:34099601..34099692hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962731
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129298
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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