A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8549



Internal ID15188629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:123729327..123774369hg38UCSC Ensembl
Outerchr8:124741567..124786609hg19UCSC Ensembl
Outerchr8:124810748..124855790hg18UCSC Ensembl
Outerchr8:124810748..124855790hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3845043
hg1945043
hg1845043
hg1745043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6373
Supporting Variants
SamplesNA12156
Known GenesANXA13, FAM91A1
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)nssv8549
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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