A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8544



Internal ID15535320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:116993131..117018675hg38UCSC Ensembl
Outerchr8:118005370..118030914hg19UCSC Ensembl
Outerchr8:118074551..118100095hg18UCSC Ensembl
Outerchr8:118074551..118100095hg17UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3825545
hg1925545
hg1825545
hg1725545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6360
Supporting Variants
SamplesNA12156
Known GenesSLC30A8
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)nssv8544
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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