A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4096



Internal ID15192137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113393584..113427243hg38UCSC Ensembl
Outerchr13:114047899..114081558hg19UCSC Ensembl
Outerchr13:113095900..113129559hg18UCSC Ensembl
Outerchr13:113095900..113129559hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg386076
hg196076
hg186076
hg176076
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1195
Supporting Variants
SamplesNA12878
Known GenesADPRHL1
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)nssv4096
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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