A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4072



Internal ID15538799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52858196..52887908hg38UCSC Ensembl
Outerchr13:53432331..53462043hg19UCSC Ensembl
Outerchr13:52330332..52360044hg18UCSC Ensembl
Outerchr13:52330332..52360044hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg387580
hg197580
hg187580
hg177580
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1045
Supporting Variants
SamplesNA12878
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)nssv4072
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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