A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439



Internal ID15203562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:110215297..110250453hg38UCSC Ensembl
Outerchr6:110536500..110571656hg19UCSC Ensembl
Outerchr6:110643193..110678349hg18UCSC Ensembl
Outerchr6:110643193..110678349hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385845
hg195845
hg185845
hg175845
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv575
SamplesNA19240
Known GenesCDC40, METTL24
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)nsv5439
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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