A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1206



Internal ID15544524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:75363295..75392353hg38UCSC Ensembl
Outerchr1:75828980..75858038hg19UCSC Ensembl
Outerchr1:75601568..75630626hg18UCSC Ensembl
Outerchr1:75541001..75570059hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3829059
hg1929059
hg1829059
hg1729059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1455
Supporting Variants
SamplesNA19240
Known GenesSLC44A5
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)nssv1206
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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