A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129242



Internal ID19277969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:197032587..197034809hg38UCSC Ensembl
Outerchr3:196759458..196761680hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382223
hg192223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2690n106
Supporting Variantsnssv3962674
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129242
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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