A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9301



Internal ID15540252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:72268895..72313399hg38UCSC Ensembl
Outerchr1:72734578..72779082hg19UCSC Ensembl
Outerchr1:72507166..72551670hg18UCSC Ensembl
Outerchr1:72446599..72491103hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3844505
hg1944505
hg1844505
hg1744505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1376
Supporting Variants
SamplesNA18517
Known GenesNEGR1
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)nssv9301
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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