A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8109



Internal ID15189069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:64484259..64529368hg38UCSC Ensembl
Outerchr5:63780086..63825195hg19UCSC Ensembl
Outerchr5:63815842..63860951hg18UCSC Ensembl
Outerchr5:63815842..63860951hg17UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3845110
hg1945110
hg1845110
hg1745110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4861
Supporting Variants
SamplesNA12156
Known GenesRGS7BP
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)nssv8109
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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