A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8550



Internal ID15188628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:123841917..123887169hg38UCSC Ensembl
Outerchr8:124854157..124899409hg19UCSC Ensembl
Outerchr8:124923338..124968590hg18UCSC Ensembl
Outerchr8:124923338..124968590hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3845253
hg1945253
hg1845253
hg1745253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6374
Supporting Variants
SamplesNA12156
Known GenesFER1L6
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)nssv8550
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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