A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv728



Internal ID15545377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:47147478..47168426hg38UCSC Ensembl
Outerchr8:48059101..48080049hg19UCSC Ensembl
Outerchr8:48178266..48199214hg18UCSC Ensembl
Outerchr8:48178266..48199214hg17UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3820949
hg1920949
hg1820949
hg1720949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6178
Supporting Variants
SamplesNA19240
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)nssv728
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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