A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6816



Internal ID15537047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11035590..11064649hg38UCSC Ensembl
Outerchr2:11175716..11204775hg19UCSC Ensembl
Outerchr2:11093167..11122226hg18UCSC Ensembl
Outerchr2:11126314..11155373hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3810370
hg1910370
hg1810370
hg1710370
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2606
Supporting Variants
SamplesNA12156
Known Genes
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)nssv6816
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