A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3412



Internal ID15538140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181038369..181062251hg38UCSC Ensembl
Outerchr5:180465369..180489251hg19UCSC Ensembl
Outerchr5:180397975..180421857hg18UCSC Ensembl
Outerchr5:180397975..180421857hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385033
hg195033
hg185033
hg175033
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5162
Supporting Variants
SamplesNA12878
Known GenesBTNL9, MIR8089
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)nssv3412
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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