A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6100



Internal ID15204290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18805950..18833087hg38UCSC Ensembl
Outerchr8:18663460..18690597hg19UCSC Ensembl
Outerchr8:18707740..18734877hg18UCSC Ensembl
Outerchr8:18707740..18734877hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg387184
hg197184
hg187184
hg177184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1722
SamplesNA18555
Known GenesPSD3
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)nsv6100
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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