A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967



Internal ID15552988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25803189..25838960hg38UCSC Ensembl
Outerchr13:26377327..26413098hg19UCSC Ensembl
Outerchr13:25275327..25311098hg18UCSC Ensembl
Outerchr13:25275327..25311098hg17UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg385874
hg195874
hg185874
hg175874
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9984, nssv9096, nssv4062
SamplesNA12156, NA12878, NA18956
Known GenesATP8A2
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)nsv967
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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