A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961920



Internal ID18873528
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 StatusS
Merged Variantsnsv1120344
Supporting Variants
SamplesKWS1
Known GenesMYOM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961920
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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