A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5080



Internal ID15196112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39101789..39134363hg38UCSC Ensembl
Outerchr8:38959308..38991882hg19UCSC Ensembl
Outerchr8:39078465..39111039hg18UCSC Ensembl
Outerchr8:39078465..39111039hg17UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg386696
hg196696
hg186696
hg176696
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6162
Supporting Variants
SamplesNA19129
Known GenesADAM32, ADAM9
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)nssv5080
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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