A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7627



Internal ID15536237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231842531..231866111hg38UCSC Ensembl
Outerchr2:232707241..232730821hg19UCSC Ensembl
Outerchr2:232415485..232439065hg18UCSC Ensembl
Outerchr2:232532746..232556326hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3810548
hg1910548
hg1810548
hg1710548
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207
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)nssv7627
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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