A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497



Internal ID15550312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:138232628..138265607hg38UCSC Ensembl
Outerchr6:138553765..138586744hg19UCSC Ensembl
Outerchr6:138595458..138628437hg18UCSC Ensembl
Outerchr6:138595458..138628437hg17UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg388014
hg198014
hg188014
hg178014
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv586
SamplesNA19240
Known GenesKIAA1244
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)nsv5497
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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