A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6170



Internal ID8518035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42494247..42528002hg38UCSC Ensembl
Outerchr8:42351765..42383142hg19UCSC Ensembl
Outerchr8:42470922..42502299hg18UCSC Ensembl
Outerchr8:42470922..42502299hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg387905
hg197905
hg187905
hg177905
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5083
SamplesNA19129
Known GenesSLC20A2
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)nsv6170
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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