A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2991



Internal ID15194869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2206862..2240689hg38UCSC Ensembl
Outerchr19:2206861..2240688hg19UCSC Ensembl
Outerchr19:2157861..2191688hg18UCSC Ensembl
Outerchr19:2157861..2191688hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386204
hg196204
hg186204
hg176204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2389
Supporting Variants
SamplesNA18555
Known GenesDOT1L, MIR1227, MIR6789, PLEKHJ1, SF3A2
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)nssv2991
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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