A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv783



Internal ID15544560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142553575..142576171hg38UCSC Ensembl
Outerchr8:143634936..143657532hg19UCSC Ensembl
Outerchr8:143631938..143654534hg18UCSC Ensembl
Outerchr8:143631938..143654534hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg387522
hg197522
hg187522
hg177522
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6436
Supporting Variants
SamplesNA19240
Known Genes
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)nssv783
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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