A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542



Internal ID15203676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:152122203..152156228hg38UCSC Ensembl
Outerchr6:152443338..152477363hg19UCSC Ensembl
Outerchr6:152485031..152519056hg18UCSC Ensembl
Outerchr6:152535452..152569477hg17UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg386970
hg196970
hg186970
hg176970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv591
SamplesNA19240
Known GenesSYNE1
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)nsv5542
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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