A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2190



Internal ID15200067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3408994..3442002hg38UCSC Ensembl
Outerchr18:3408992..3442000hg19UCSC Ensembl
Outerchr18:3398992..3432000hg18UCSC Ensembl
Outerchr18:3398992..3432000hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg387982
hg197982
hg187982
hg177982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1392
SamplesNA19240
Known GenesTGIF1
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)nsv2190
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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