A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2599



Internal ID8514144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119392400..119425125hg38UCSC Ensembl
Outerchr1:119935023..119967748hg19UCSC Ensembl
Outerchr1:119736546..119769271hg18UCSC Ensembl
Outerchr1:119647065..119679790hg17UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3832726
hg1932726
hg1832726
hg1732726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4648
SamplesNA19129
Known GenesHAO2, HSD3B2
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)nsv2599
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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