A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv395



Internal ID15548610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:76157654..76184321hg38UCSC Ensembl
Outerchr11:75868698..75895365hg19UCSC Ensembl
Outerchr11:75546346..75573013hg18UCSC Ensembl
Outerchr11:75546346..75573013hg17UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg385965
hg195965
hg185965
hg175965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967
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)nsv395
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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