A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3452



Internal ID15538180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:82239197..82261925hg38UCSC Ensembl
Outerchr6:82948914..82971642hg19UCSC Ensembl
Outerchr6:83005633..83028361hg18UCSC Ensembl
Outerchr6:83005633..83028361hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg389250
hg199250
hg189250
hg179250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5373
Supporting Variants
SamplesNA12878
Known GenesIBTK
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)nssv3452
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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