A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969



Internal ID15552990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:26594538..26600067hg38UCSC Ensembl
Outerchr13:27168675..27174204hg19UCSC Ensembl
Outerchr13:26066675..26072204hg18UCSC Ensembl
Outerchr13:26066675..26072204hg17UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3812694
hg1912694
hg1812694
hg1712694
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9848
SamplesNA18507
Known GenesWASF3
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)nsv969
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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