A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3631



Internal ID15548260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2091305..2125513hg38UCSC Ensembl
Outerchr1:2022744..2056952hg19UCSC Ensembl
Outerchr1:2012604..2046812hg18UCSC Ensembl
Outerchr1:2054906..2089114hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg385226
hg195226
hg185226
hg175226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7778
SamplesNA12156
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)nsv3631
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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