A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120344



Internal ID18938925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3154195..3154293hg38UCSC Ensembl
Outerchr18:3154193..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 Variantsdgv1537n106
Supporting Variantsnssv3961920
SamplesKWS1
Known GenesMYOM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120344
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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