A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4616



Internal ID15196669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143781830..143826293hg38UCSC Ensembl
Outerchr8:144864000..144908463hg19UCSC Ensembl
Outerchr8:144935988..144980451hg18UCSC Ensembl
Outerchr8:144935988..144980451hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3844464
hg1944464
hg1844464
hg1744464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6442
Supporting Variants
SamplesNA19129
Known GenesMIR937, PUF60, SCRIB
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)nssv4616
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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