A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8452



Internal ID15535412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2319477..2350763hg38UCSC Ensembl
Outerchr1:2250916..2282202hg19UCSC Ensembl
Outerchr1:2240776..2272062hg18UCSC Ensembl
Outerchr1:2283078..2314364hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg385352
hg195352
hg185352
hg175352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4742
Supporting Variants
SamplesNA12156
Known GenesLOC100129534, MORN1
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)nssv8452
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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