A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6884



Internal ID15190294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168860314..168872805hg38UCSC Ensembl
Outerchr2:169716824..169729315hg19UCSC Ensembl
Outerchr2:169425070..169437561hg18UCSC Ensembl
Outerchr2:169542331..169554822hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3816489
hg1916489
hg1816489
hg1716489
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3023
Supporting Variants
SamplesNA12156
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)nssv6884
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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