A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8127



Internal ID15535737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:98652627..98669782hg38UCSC Ensembl
Outerchr5:97988331..98005486hg19UCSC Ensembl
Outerchr5:98016231..98033386hg18UCSC Ensembl
Outerchr5:98016231..98033386hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3817156
hg1917156
hg1817156
hg1717156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4929
Supporting Variants
SamplesNA12156
Known GenesRNU2-2P
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)nssv8127
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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