A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10629



Internal ID15542169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85659344..85660262hg38UCSC Ensembl
Outerchr8:86571573..86572491hg19UCSC Ensembl
Outerchr8:86758825..86759743hg18UCSC Ensembl
Outerchr8:86758825..86759743hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3834830
hg1934830
hg1834830
hg1734830
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6284
Supporting Variants
SamplesNA18956
Known GenesREXO1L1
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)nssv10629
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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