A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2813



Internal ID15200690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:86480671..86514180hg38UCSC Ensembl
Outerchr2:86707794..86741303hg19UCSC Ensembl
Outerchr2:86561305..86594814hg18UCSC Ensembl
Outerchr2:86619452..86652961hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg385926
hg195926
hg185926
hg175926
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7517
SamplesNA12156
Known GenesCHMP3, KDM3A, RNF103-CHMP3
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)nsv2813
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