A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120219



Internal ID18923824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:44927493..44928686hg38UCSC Ensembl
Outerchr10:45422941..45424134hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381194
hg191194
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960998
SamplesKWS1
Known GenesTMEM72, TMEM72-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120219
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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