A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599



Internal ID15204168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40614896..40648261hg38UCSC Ensembl
Outerchr1:41080568..41113933hg19UCSC Ensembl
Outerchr1:40853155..40886520hg18UCSC Ensembl
Outerchr1:40749661..40783026hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3833366
hg1933366
hg1833366
hg1733366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9047
SamplesNA12156
Known GenesRIMS3
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)nsv599
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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