A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4081



Internal ID15538808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:89275396..89309338hg38UCSC Ensembl
Outerchr13:89927650..89961592hg19UCSC Ensembl
Outerchr13:88725651..88759593hg18UCSC Ensembl
Outerchr13:88725651..88759593hg17UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg385802
hg195802
hg185802
hg175802
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115
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)nssv4081
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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