A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv989



Internal ID15206324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:31807073..31847660hg38UCSC Ensembl
Outerchr13:32381210..32421797hg19UCSC Ensembl
Outerchr13:31279210..31319797hg18UCSC Ensembl
Outerchr13:31279210..31319797hg17UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3840588
hg1940588
hg1840588
hg1740588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5469
SamplesNA19129
Known GenesEEF1DP3
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)nsv989
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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