A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1097



Internal ID15198974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:78576585..78609180hg38UCSC Ensembl
Outerchr13:79150720..79183315hg19UCSC Ensembl
Outerchr13:78048721..78081316hg18UCSC Ensembl
Outerchr13:78048721..78081316hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg387434
hg197434
hg187434
hg177434
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2044
SamplesNA18555
Known GenesPOU4F1, RNF219-AS1
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)nsv1097
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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