A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434



Internal ID15550243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:108692605..108727172hg38UCSC Ensembl
Outerchr6:109013808..109048375hg19UCSC Ensembl
Outerchr6:109120501..109155068hg18UCSC Ensembl
Outerchr6:109120501..109155068hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385456
hg195456
hg185456
hg175456
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2730
SamplesNA18555
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)nsv5434
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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