A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6189



Internal ID15551073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:51233274..51278572hg38UCSC Ensembl
Outerchr8:52145834..52191132hg19UCSC Ensembl
Outerchr8:52308387..52353685hg18UCSC Ensembl
Outerchr8:52308387..52353685hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3845299
hg1945299
hg1845299
hg1745299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8488
SamplesNA12156
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)nsv6189
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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