A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4464



Internal ID15202490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:110592303..110625964hg38UCSC Ensembl
Outerchr4:111513459..111547120hg19UCSC Ensembl
Outerchr4:111732908..111766569hg18UCSC Ensembl
Outerchr4:111871063..111904724hg17UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg386070
hg196070
hg186070
hg176070
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3275
SamplesNA12878
Known GenesPITX2
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)nsv4464
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