A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6185



Internal ID15551069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:50301088..50324636hg38UCSC Ensembl
Outerchr8:51213648..51237196hg19UCSC Ensembl
Outerchr8:51376201..51399749hg18UCSC Ensembl
Outerchr8:51376201..51399749hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3823549
hg1923549
hg1823549
hg1723549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1738
SamplesNA18555
Known GenesSNTG1
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)nsv6185
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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