A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5700



Internal ID15543723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:48667384..48676777hg38UCSC Ensembl
Outerchr18:46193755..46203148hg19UCSC Ensembl
Outerchr18:44447753..44457146hg18UCSC Ensembl
Outerchr18:44447753..44457146hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg387445
hg197445
hg187445
hg177445
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2291
Supporting Variants
SamplesNA19129
Known GenesCTIF, MIR4743
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)nssv5700
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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