A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129171



Internal ID19262344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:111631417..111631501hg38UCSC Ensembl
Outerchr13:112283764..112283848hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962601
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129171
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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