A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3864



Internal ID15548516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:69274724..69310095hg38UCSC Ensembl
Outerchr3:69323875..69359246hg19UCSC Ensembl
Outerchr3:69406565..69441936hg18UCSC Ensembl
Outerchr3:69406565..69441936hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg385622
hg195622
hg185622
hg175622
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv308
SamplesNA19240
Known GenesFRMD4B
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)nsv3864
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