A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9352



Internal ID15540303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:126309382..126331130hg38UCSC Ensembl
Outerchr2:127066959..127088707hg19UCSC Ensembl
Outerchr2:126783429..126805177hg18UCSC Ensembl
Outerchr2:126783189..126804937hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3813898
hg1913898
hg1813898
hg1713898
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2906
Supporting Variants
SamplesNA18517
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)nssv9352
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