A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4530



Internal ID15549249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:140872183..140905014hg38UCSC Ensembl
Outerchr4:141793337..141826168hg19UCSC Ensembl
Outerchr4:142012787..142045618hg18UCSC Ensembl
Outerchr4:142150942..142183773hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg386919
hg196919
hg186919
hg176919
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3289
SamplesNA12878
Known GenesRNF150
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)nsv4530
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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