A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8145



Internal ID15535719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:125564060..125609223hg38UCSC Ensembl
Outerchr5:124899753..124944916hg19UCSC Ensembl
Outerchr5:124927652..124972815hg18UCSC Ensembl
Outerchr5:124927652..124972815hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3845164
hg1945164
hg1845164
hg1745164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4986
Supporting Variants
SamplesNA12156
Known Genes
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)nssv8145
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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