A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6148



Internal ID15551028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:34812126..34856578hg38UCSC Ensembl
Outerchr8:34669644..34714096hg19UCSC Ensembl
Outerchr8:34789186..34833638hg18UCSC Ensembl
Outerchr8:34789186..34833638hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3844453
hg1944453
hg1844453
hg1744453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4612
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)nsv6148
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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