A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5182



Internal ID15203280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:5699986..5733345hg38UCSC Ensembl
Outerchr6:5700219..5733578hg19UCSC Ensembl
Outerchr6:5645218..5678577hg18UCSC Ensembl
Outerchr6:5645218..5678577hg17UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg386080
hg196080
hg186080
hg176080
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8214
SamplesNA12156
Known GenesFARS2
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)nsv5182
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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