A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142160



Internal ID19269317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110479396..110479463hg38UCSC Ensembl
Outerchr13:111131743..111131810hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983763, nssv3988072
SamplesKWS2, KWS1
Known GenesCOL4A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142160
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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