A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6375



Internal ID15204592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:124044302..124075017hg38UCSC Ensembl
Outerchr8:125056543..125087258hg19UCSC Ensembl
Outerchr8:125125724..125156439hg18UCSC Ensembl
Outerchr8:125125724..125156439hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3830716
hg1930716
hg1830716
hg1730716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8551
SamplesNA12156
Known GenesFER1L6, FER1L6-AS2
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)nsv6375
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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