A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5203



Internal ID15549989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13122644..13146272hg38UCSC Ensembl
Outerchr6:13122876..13146504hg19UCSC Ensembl
Outerchr6:13230862..13254490hg18UCSC Ensembl
Outerchr6:13230862..13254490hg17UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg386198
hg196198
hg186198
hg176198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv526, nssv2720
SamplesNA18555, NA19240
Known GenesPHACTR1
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)nsv5203
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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