A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1954



Internal ID15546517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:96617566..96662530hg38UCSC Ensembl
Outerchr1:97083122..97128086hg19UCSC Ensembl
Outerchr1:96855710..96900674hg18UCSC Ensembl
Outerchr1:96795143..96840107hg17UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3844965
hg1944965
hg1844965
hg1744965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7383
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)nsv1954
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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