A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11024



Internal ID15192998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168864813..168882855hg38UCSC Ensembl
Outerchr2:169721323..169739365hg19UCSC Ensembl
Outerchr2:169429569..169447611hg18UCSC Ensembl
Outerchr2:169546830..169564872hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3818033
hg1918033
hg1818033
hg1718033
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3023
Supporting Variants
SamplesNA15510
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)nssv11024
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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