A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9220



Internal ID15187958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:75980055..76025113hg38UCSC Ensembl
Outerchr14:76446398..76491456hg19UCSC Ensembl
Outerchr14:75516151..75561209hg18UCSC Ensembl
Outerchr14:75516151..75561209hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3845059
hg1945059
hg1845059
hg1745059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1360
Supporting Variants
SamplesNA12156
Known GenesBCYRN1, IFT43, TGFB3
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)nssv9220
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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