A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3378



Internal ID15538106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:110128718..110160078hg38UCSC Ensembl
Outerchr5:109464419..109495779hg19UCSC Ensembl
Outerchr5:109492318..109523678hg18UCSC Ensembl
Outerchr5:109492318..109523678hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg385013
hg195013
hg185013
hg175013
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4956
Supporting Variants
SamplesNA12878
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)nssv3378
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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