A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1095



Internal ID15545658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:78273499..78307699hg38UCSC Ensembl
Outerchr13:78847634..78881834hg19UCSC Ensembl
Outerchr13:77745635..77779835hg18UCSC Ensembl
Outerchr13:77745635..77779835hg17UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg386779
hg196779
hg186779
hg176779
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154
SamplesNA19240
Known GenesRNF219-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)nsv1095
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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