A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7173



Internal ID15536691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69221544..69266542hg38UCSC Ensembl
Outerchr1:69687227..69732225hg19UCSC Ensembl
Outerchr1:69459815..69504813hg18UCSC Ensembl
Outerchr1:69399248..69444246hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3844999
hg1944999
hg1844999
hg1744999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1299
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)nssv7173
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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