A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5179



Internal ID15196125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6564860..6590481hg38UCSC Ensembl
Outerchr10:6606822..6632443hg19UCSC Ensembl
Outerchr10:6646828..6672449hg18UCSC Ensembl
Outerchr10:6646828..6672449hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3813652
hg1913652
hg1813652
hg1713652
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5698
Supporting Variants
SamplesNA19129
Known GenesPRKCQ, PRKCQ-AS1
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)nssv5179
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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