A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999



Internal ID15553020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58353342..58384098hg38UCSC Ensembl
Outerchr1:58819014..58849770hg19UCSC Ensembl
Outerchr1:58591602..58622358hg18UCSC Ensembl
Outerchr1:58531035..58561791hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg386366
hg196366
hg186366
hg176366
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9989
SamplesNA18956
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)nsv999
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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