A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2211



Internal ID15546774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:13598707..13614927hg38UCSC Ensembl
Outerchr18:13598706..13614926hg19UCSC Ensembl
Outerchr18:13588706..13604926hg18UCSC Ensembl
Outerchr18:13588706..13604926hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg386764
hg196764
hg186764
hg176764
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5689
SamplesNA19129
Known GenesLDLRAD4, MIR4526
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)nsv2211
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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