A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6428



Internal ID15551336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141211968..141245531hg38UCSC Ensembl
Outerchr8:142222067..142255630hg19UCSC Ensembl
Outerchr8:142291249..142324812hg18UCSC Ensembl
Outerchr8:142291249..142324812hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385872
hg195872
hg185872
hg175872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8569
SamplesNA12156
Known GenesSLC45A4
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)nsv6428
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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