A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1499



Internal ID15546062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:76239296..76284003hg38UCSC Ensembl
Outerchr1:76704981..76749688hg19UCSC Ensembl
Outerchr1:76477569..76522276hg18UCSC Ensembl
Outerchr1:76417002..76461709hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3844708
hg1944708
hg1844708
hg1744708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5659
SamplesNA19129
Known GenesST6GALNAC3
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)nsv1499
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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