A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4724



Internal ID15196582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8589307..8622234hg38UCSC Ensembl
Outerchr4:8591034..8623960hg19UCSC Ensembl
Outerchr4:8641934..8674860hg18UCSC Ensembl
Outerchr4:8709105..8742031hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg386346
hg196346
hg186346
hg176346
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4225
Supporting Variants
SamplesNA19129
Known GenesCPZ, GPR78
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)nssv4724
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