A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147



Internal ID15551027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:34456511..34501606hg38UCSC Ensembl
Outerchr8:34314029..34359124hg19UCSC Ensembl
Outerchr8:34433571..34478666hg18UCSC Ensembl
Outerchr8:34433571..34478666hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3845096
hg1945096
hg1845096
hg1745096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5073
SamplesNA19129
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)nsv6147
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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