A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11032



Internal ID15539676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231842273..231867556hg38UCSC Ensembl
Outerchr2:232706983..232732266hg19UCSC Ensembl
Outerchr2:232415227..232440510hg18UCSC Ensembl
Outerchr2:232532488..232557771hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3813576
hg1913576
hg1813576
hg1713576
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207
Supporting Variants
SamplesNA15510
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)nssv11032
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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