A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3084



Internal ID15547658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:191406616..191437684hg38UCSC Ensembl
Outerchr2:192271342..192302410hg19UCSC Ensembl
Outerchr2:191979587..192010655hg18UCSC Ensembl
Outerchr2:192096848..192127916hg17UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg389934
hg199934
hg189934
hg179934
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1560
SamplesNA19240
Known GenesMYO1B
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv3084
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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