A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129266



Internal ID19270546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:20024061..20024115hg38UCSC Ensembl
Outerchr6:20024292..20024346hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962699
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129266
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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