A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4339



Internal ID15192380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8266772..8320660hg38UCSC Ensembl
Outerchr19:8331656..8385544hg19UCSC Ensembl
Outerchr19:8237656..8291544hg18UCSC Ensembl
Outerchr19:8237656..8291544hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3853889
hg1953889
hg1853889
hg1753889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2401
Supporting Variants
SamplesNA12878
Known GenesCD320, NDUFA7
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)nssv4339
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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