A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9343



Internal ID15193608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:26728485..26752631hg38UCSC Ensembl
Outerchr2:26951353..26975499hg19UCSC Ensembl
Outerchr2:26804857..26829003hg18UCSC Ensembl
Outerchr2:26863004..26887150hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3813441
hg1913441
hg1813441
hg1713441
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2653
Supporting Variants
SamplesNA18517
Known GenesKCNK3
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)nssv9343
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