A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319



Internal ID15204530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:96271561..96303665hg38UCSC Ensembl
Outerchr8:97283789..97315893hg19UCSC Ensembl
Outerchr8:97352965..97385069hg18UCSC Ensembl
Outerchr8:97352965..97385069hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg387177
hg197177
hg187177
hg177177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5119
SamplesNA19129
Known GenesPTDSS1
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)nsv6319
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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