A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5854



Internal ID15204019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21676656..21711616hg38UCSC Ensembl
Outerchr1:22003149..22038109hg19UCSC Ensembl
Outerchr1:21875736..21910696hg18UCSC Ensembl
Outerchr1:21748455..21783415hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg384780
hg194780
hg184780
hg174780
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954
SamplesNA12878
Known GenesUSP48
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)nsv5854
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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