A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3383



Internal ID15547987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:42710249..42739913hg38UCSC Ensembl
Outerchr20:41338889..41368553hg19UCSC Ensembl
Outerchr20:40772303..40801967hg18UCSC Ensembl
Outerchr20:40772303..40801967hg17UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg386006
hg196006
hg186006
hg176006
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7682
SamplesNA12156
Known GenesPTPRT
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)nsv3383
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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