A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3679



Internal ID15191721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:96219001..96245773hg38UCSC Ensembl
Outerchr8:97231229..97258001hg19UCSC Ensembl
Outerchr8:97300405..97327177hg18UCSC Ensembl
Outerchr8:97300405..97327177hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg386300
hg196300
hg186300
hg176300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318
Supporting Variants
SamplesNA12878
Known GenesMTERFD1, UQCRB
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)nssv3679
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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