A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv384



Internal ID15201803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:72074236..72106174hg38UCSC Ensembl
Outerchr11:71785282..71817220hg19UCSC Ensembl
Outerchr11:71462930..71494868hg18UCSC Ensembl
Outerchr11:71462930..71494868hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg387567
hg197567
hg187567
hg177567
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10828
SamplesNA18956
Known GenesLAMTOR1, LRTOMT, NUMA1
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)nsv384
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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