A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129600



Internal ID18940025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3103020..3103089hg38UCSC Ensembl
Outerchr18:3103018..3103087hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963873
SamplesKWS1
Known GenesMYOM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129600
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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