A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5530



Internal ID15543929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105771018..106036577hg38UCSC Ensembl
Outerchr14:106237355..106492809hg19UCSC Ensembl
Outerchr14:105308400..105563854hg18UCSC Ensembl
Outerchr14:105308400..105563854hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38265560
hg19255455
hg18255455
hg17255455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1443
Supporting Variants
SamplesNA19129
Known GenesADAM6, KIAA0125
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)nssv5530
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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