A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3049



Internal ID15540926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222719186..222753275hg38UCSC Ensembl
Outerchr2:223583905..223617994hg19UCSC Ensembl
Outerchr2:223292149..223326238hg18UCSC Ensembl
Outerchr2:223409410..223443499hg17UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg385923
hg195923
hg185923
hg175923
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3179
Supporting Variants
SamplesNA18555
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)nssv3049
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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