A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5468



Internal ID15196736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31428483..31442851hg38UCSC Ensembl
Outerchr1:31901330..31915698hg19UCSC Ensembl
Outerchr1:31673917..31688285hg18UCSC Ensembl
Outerchr1:31570423..31584791hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg387034
hg197034
hg187034
hg177034
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7712
Supporting Variants
SamplesNA19129
Known GenesSERINC2
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)nssv5468
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer