A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8486



Internal ID15535378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:47882618..47904735hg38UCSC Ensembl
Outerchr8:48795179..48817295hg19UCSC Ensembl
Outerchr8:48957732..48979848hg18UCSC Ensembl
Outerchr8:48957732..48979848hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3822118
hg1922117
hg1822117
hg1722117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6179
Supporting Variants
SamplesNA12156
Known GenesPRKDC
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)nssv8486
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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