A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1172



Internal ID15199049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:106560887..106594721hg38UCSC Ensembl
Outerchr13:107213235..107247069hg19UCSC Ensembl
Outerchr13:106011236..106045070hg18UCSC Ensembl
Outerchr13:106011236..106045070hg17UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg387153
hg197153
hg187153
hg177153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1168
SamplesNA19240
Known GenesARGLU1
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)nsv1172
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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