A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119436



Internal ID19284340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:101334362..101334442hg38UCSC Ensembl
Outerchr13:101986713..101986793hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959879
SamplesKWS1
Known GenesNALCN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119436
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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