A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1537n106



Internal ID20160894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3154195..3154293hg38UCSC Ensembl
chr18:3154193..3154291hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1120344, nsv1142908
SamplesKWS1, KWS2
Known GenesMYOM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1537n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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