A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979680



Internal ID18896140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3154202..3154293hg38UCSC Ensembl
Outerchr18:3154200..3154291hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142908
Supporting Variants
SamplesKWS2
Known GenesMYOM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979680
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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