A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6304



Internal ID15551200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:92342965..92376830hg38UCSC Ensembl
Outerchr8:93355193..93389058hg19UCSC Ensembl
Outerchr8:93424369..93458234hg18UCSC Ensembl
Outerchr8:93424369..93458234hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg386138
hg196138
hg186138
hg176138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2795
SamplesNA18555
Known Genes
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)nsv6304
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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