A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1173



Internal ID15545736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:106759217..106801486hg38UCSC Ensembl
Outerchr13:107411565..107453834hg19UCSC Ensembl
Outerchr13:106209566..106251835hg18UCSC Ensembl
Outerchr13:106209566..106251835hg17UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg386512
hg196512
hg186512
hg176512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2911, nssv9162, nssv10003, nssv4090
SamplesNA12156, NA12878, NA18956, NA18555
Known Genes
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)nsv1173
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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