A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1549



Internal ID15198842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168861142..168873420hg38UCSC Ensembl
Outerchr2:169717652..169729930hg19UCSC Ensembl
Outerchr2:169425898..169438176hg18UCSC Ensembl
Outerchr2:169543159..169555437hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3820053
hg1920053
hg1820053
hg1720053
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3023
Supporting Variants
SamplesNA19240
Known GenesNOSTRIN, SPC25
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)nssv1549
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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