A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2520



Internal ID15200397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2063294..2089621hg38UCSC Ensembl
Outerchr1:1994733..2021060hg19UCSC Ensembl
Outerchr1:1984593..2010920hg18UCSC Ensembl
Outerchr1:2026895..2053222hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg388392
hg198392
hg188392
hg178392
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1058
SamplesNA19240
Known GenesPRKCZ
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)nsv2520
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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